SNP Links for Protein (Select 323668276) - SNP

Links from Protein

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Select item 14896572941.

rs1489657294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:3722207 (GRCh38)
1:3638771 (GRCh37)
Canonical SPDI:: NC_000001.11:3722206:G:C
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.3722207G>C, NC_000001.10:g.3638771G>C, NG_017035.2:g.74643G>C, NM_005427.4:c.616G>C, NM_005427.3:c.616G>C, NM_001126240.3:c.469G>C, NM_001126240.2:c.469G>C, NM_001126241.3:c.469G>C, NM_001126241.2:c.469G>C, NM_001126242.3:c.469G>C, NM_001126242.2:c.469G>C, NM_001204184.2:c.616G>C, NM_001204184.1:c.616G>C, NM_001204185.2:c.616G>C, NM_001204185.1:c.616G>C, NM_001204192.2:c.403G>C, NM_001204192.1:c.403G>C, NM_001204187.2:c.616G>C, NM_001204187.1:c.616G>C, NM_001204188.2:c.616G>C, NM_001204188.1:c.616G>C, NM_001204190.2:c.469G>C, NM_001204190.1:c.469G>C, NM_001204191.2:c.469G>C, NM_001204191.1:c.469G>C, NM_001204186.2:c.616G>C, NM_001204186.1:c.616G>C, NM_001204189.2:c.469G>C, NM_001204189.1:c.469G>C, XM_047429524.1:c.616G>C, XM_047429521.1:c.616G>C, NP_005418.1:p.Gly206Arg, NP_001119712.1:p.Gly157Arg, NP_001119713.1:p.Gly157Arg, NP_001119714.1:p.Gly157Arg, NP_001191113.1:p.Gly206Arg, NP_001191114.1:p.Gly206Arg, NP_001191121.1:p.Gly135Arg, NP_001191116.1:p.Gly206Arg, NP_001191117.1:p.Gly206Arg, NP_001191119.1:p.Gly157Arg, NP_001191120.1:p.Gly157Arg, NP_001191115.1:p.Gly206Arg, NP_001191118.1:p.Gly157Arg, XP_047285480.1:p.Gly206Arg, XP_047285477.1:p.Gly206Arg

Select item 14883749782.

rs1488374978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:3722123 (GRCh38)
1:3638687 (GRCh37)
Canonical SPDI:: NC_000001.11:3722122:A:C,NC_000001.11:3722122:A:G
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.3722123A>C, NC_000001.11:g.3722123A>G, NC_000001.10:g.3638687A>C, NC_000001.10:g.3638687A>G, NG_017035.2:g.74559A>C, NG_017035.2:g.74559A>G, NM_005427.4:c.532A>C, NM_005427.4:c.532A>G, NM_005427.3:c.532A>C, NM_005427.3:c.532A>G, NM_001126240.3:c.385A>C, NM_001126240.3:c.385A>G, NM_001126240.2:c.385A>C, NM_001126240.2:c.385A>G, NM_001126241.3:c.385A>C, NM_001126241.3:c.385A>G, NM_001126241.2:c.385A>C, NM_001126241.2:c.385A>G, NM_001126242.3:c.385A>C, NM_001126242.3:c.385A>G, NM_001126242.2:c.385A>C, NM_001126242.2:c.385A>G, NM_001204184.2:c.532A>C, NM_001204184.2:c.532A>G, NM_001204184.1:c.532A>C, NM_001204184.1:c.532A>G, NM_001204185.2:c.532A>C, NM_001204185.2:c.532A>G, NM_001204185.1:c.532A>C, NM_001204185.1:c.532A>G, NM_001204192.2:c.319A>C, NM_001204192.2:c.319A>G, NM_001204192.1:c.319A>C, NM_001204192.1:c.319A>G, NM_001204187.2:c.532A>C, NM_001204187.2:c.532A>G, NM_001204187.1:c.532A>C, NM_001204187.1:c.532A>G, NM_001204188.2:c.532A>C, NM_001204188.2:c.532A>G, NM_001204188.1:c.532A>C, NM_001204188.1:c.532A>G, NM_001204190.2:c.385A>C, NM_001204190.2:c.385A>G, NM_001204190.1:c.385A>C, NM_001204190.1:c.385A>G, NM_001204191.2:c.385A>C, NM_001204191.2:c.385A>G, NM_001204191.1:c.385A>C, NM_001204191.1:c.385A>G, NM_001204186.2:c.532A>C, NM_001204186.2:c.532A>G, NM_001204186.1:c.532A>C, NM_001204186.1:c.532A>G, NM_001204189.2:c.385A>C, NM_001204189.2:c.385A>G, NM_001204189.1:c.385A>C, NM_001204189.1:c.385A>G, XM_047429524.1:c.532A>C, XM_047429524.1:c.532A>G, XM_047429521.1:c.532A>C, XM_047429521.1:c.532A>G, NP_005418.1:p.Met178Leu, NP_005418.1:p.Met178Val, NP_001119712.1:p.Met129Leu, NP_001119712.1:p.Met129Val, NP_001119713.1:p.Met129Leu, NP_001119713.1:p.Met129Val, NP_001119714.1:p.Met129Leu, NP_001119714.1:p.Met129Val, NP_001191113.1:p.Met178Leu, NP_001191113.1:p.Met178Val, NP_001191114.1:p.Met178Leu, NP_001191114.1:p.Met178Val, NP_001191121.1:p.Met107Leu, NP_001191121.1:p.Met107Val, NP_001191116.1:p.Met178Leu, NP_001191116.1:p.Met178Val, NP_001191117.1:p.Met178Leu, NP_001191117.1:p.Met178Val, NP_001191119.1:p.Met129Leu, NP_001191119.1:p.Met129Val, NP_001191120.1:p.Met129Leu, NP_001191120.1:p.Met129Val, NP_001191115.1:p.Met178Leu, NP_001191115.1:p.Met178Val, NP_001191118.1:p.Met129Leu, NP_001191118.1:p.Met129Val, XP_047285480.1:p.Met178Leu, XP_047285480.1:p.Met178Val, XP_047285477.1:p.Met178Leu, XP_047285477.1:p.Met178Val

Select item 14866647773.

rs1486664777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3707654 (GRCh38)
1:3624218 (GRCh37)
Canonical SPDI:: NC_000001.11:3707653:C:T
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.3707654C>T, NC_000001.10:g.3624218C>T, NG_017035.2:g.60090C>T, NM_005427.4:c.292C>T, NM_005427.3:c.292C>T, NM_001126240.3:c.145C>T, NM_001126240.2:c.145C>T, NM_001126241.3:c.145C>T, NM_001126241.2:c.145C>T, NM_001126242.3:c.145C>T, NM_001126242.2:c.145C>T, NM_001204184.2:c.292C>T, NM_001204184.1:c.292C>T, NM_001204185.2:c.292C>T, NM_001204185.1:c.292C>T, NM_001204192.2:c.79C>T, NM_001204192.1:c.79C>T, NM_001204187.2:c.292C>T, NM_001204187.1:c.292C>T, NM_001204188.2:c.292C>T, NM_001204188.1:c.292C>T, NM_001204190.2:c.145C>T, NM_001204190.1:c.145C>T, NM_001204191.2:c.145C>T, NM_001204191.1:c.145C>T, NM_001204186.2:c.292C>T, NM_001204186.1:c.292C>T, NM_001204189.2:c.145C>T, NM_001204189.1:c.145C>T, XM_047429524.1:c.292C>T, XM_047429521.1:c.292C>T, NP_005418.1:p.Pro98Ser, NP_001119712.1:p.Pro49Ser, NP_001119713.1:p.Pro49Ser, NP_001119714.1:p.Pro49Ser, NP_001191113.1:p.Pro98Ser, NP_001191114.1:p.Pro98Ser, NP_001191121.1:p.Pro27Ser, NP_001191116.1:p.Pro98Ser, NP_001191117.1:p.Pro98Ser, NP_001191119.1:p.Pro49Ser, NP_001191120.1:p.Pro49Ser, NP_001191115.1:p.Pro98Ser, NP_001191118.1:p.Pro49Ser, XP_047285480.1:p.Pro98Ser, XP_047285477.1:p.Pro98Ser

Select item 14860864684.

rs1486086468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:3728165 (GRCh38)
1:3644729 (GRCh37)
Canonical SPDI:: NC_000001.11:3728164:G:A
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3728165G>A, NC_000001.10:g.3644729G>A, NG_017035.2:g.80601G>A, NM_005427.4:c.1022G>A, NM_005427.3:c.1022G>A, NM_001126240.3:c.875G>A, NM_001126240.2:c.875G>A, NM_001126241.3:c.875G>A, NM_001126241.2:c.875G>A, NM_001126242.3:c.875G>A, NM_001126242.2:c.875G>A, NM_001204184.2:c.1022G>A, NM_001204184.1:c.1022G>A, NM_001204185.2:c.1022G>A, NM_001204185.1:c.1022G>A, NM_001204192.2:c.809G>A, NM_001204192.1:c.809G>A, NM_001204187.2:c.1022G>A, NM_001204187.1:c.1022G>A, NM_001204188.2:c.1022G>A, NM_001204188.1:c.1022G>A, NM_001204190.2:c.875G>A, NM_001204190.1:c.875G>A, NM_001204191.2:c.875G>A, NM_001204191.1:c.875G>A, NM_001204186.2:c.1022G>A, NM_001204186.1:c.1022G>A, NM_001204189.2:c.875G>A, NM_001204189.1:c.875G>A, XM_047429524.1:c.1022G>A, XM_047429521.1:c.1022G>A, NP_005418.1:p.Gly341Asp, NP_001119712.1:p.Gly292Asp, NP_001119713.1:p.Gly292Asp, NP_001119714.1:p.Gly292Asp, NP_001191113.1:p.Gly341Asp, NP_001191114.1:p.Gly341Asp, NP_001191121.1:p.Gly270Asp, NP_001191116.1:p.Gly341Asp, NP_001191117.1:p.Gly341Asp, NP_001191119.1:p.Gly292Asp, NP_001191120.1:p.Gly292Asp, NP_001191115.1:p.Gly341Asp, NP_001191118.1:p.Gly292Asp, XP_047285480.1:p.Gly341Asp, XP_047285477.1:p.Gly341Asp

Select item 14854749185.

rs1485474918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3690936 (GRCh38)
1:3607500 (GRCh37)
Canonical SPDI:: NC_000001.11:3690935:C:T
Gene:: TP73 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.3690936C>T, NC_000001.10:g.3607500C>T, NG_017035.2:g.43372C>T, NM_001126240.3:c.31C>T, NM_001126240.2:c.31C>T, NM_001126241.3:c.31C>T, NM_001126241.2:c.31C>T, NM_001126242.3:c.31C>T, NM_001126242.2:c.31C>T, NM_001204190.2:c.31C>T, NM_001204190.1:c.31C>T, NM_001204191.2:c.31C>T, NM_001204191.1:c.31C>T, NM_001204189.2:c.31C>T, NM_001204189.1:c.31C>T, NP_001119712.1:p.Leu11Phe, NP_001119713.1:p.Leu11Phe, NP_001119714.1:p.Leu11Phe, NP_001191119.1:p.Leu11Phe, NP_001191120.1:p.Leu11Phe, NP_001191118.1:p.Leu11Phe

Select item 14830211486.

rs1483021148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:3729367 (GRCh38)
1:3645931 (GRCh37)
Canonical SPDI:: NC_000001.11:3729366:A:G
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3729367A>G, NC_000001.10:g.3645931A>G, NG_017035.2:g.81803A>G, NM_005427.4:c.1115A>G, NM_005427.3:c.1115A>G, NM_001126240.3:c.968A>G, NM_001126240.2:c.968A>G, NM_001126241.3:c.968A>G, NM_001126241.2:c.968A>G, NM_001126242.3:c.968A>G, NM_001126242.2:c.968A>G, NM_001204184.2:c.1115A>G, NM_001204184.1:c.1115A>G, NM_001204185.2:c.1115A>G, NM_001204185.1:c.1115A>G, NM_001204192.2:c.902A>G, NM_001204192.1:c.902A>G, NM_001204187.2:c.1115A>G, NM_001204187.1:c.1115A>G, NM_001204188.2:c.1115A>G, NM_001204188.1:c.1115A>G, NM_001204190.2:c.968A>G, NM_001204190.1:c.968A>G, NM_001204191.2:c.968A>G, NM_001204191.1:c.968A>G, NM_001204186.2:c.1115A>G, NM_001204186.1:c.1115A>G, NM_001204189.2:c.968A>G, NM_001204189.1:c.968A>G, XM_047429524.1:c.1115A>G, XM_047429521.1:c.1115A>G, NP_005418.1:p.Lys372Arg, NP_001119712.1:p.Lys323Arg, NP_001119713.1:p.Lys323Arg, NP_001119714.1:p.Lys323Arg, NP_001191113.1:p.Lys372Arg, NP_001191114.1:p.Lys372Arg, NP_001191121.1:p.Lys301Arg, NP_001191116.1:p.Lys372Arg, NP_001191117.1:p.Lys372Arg, NP_001191119.1:p.Lys323Arg, NP_001191120.1:p.Lys323Arg, NP_001191115.1:p.Lys372Arg, NP_001191118.1:p.Lys323Arg, XP_047285480.1:p.Lys372Arg, XP_047285477.1:p.Lys372Arg

Select item 14822149367.

rs1482214936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:3722054 (GRCh38)
1:3638618 (GRCh37)
Canonical SPDI:: NC_000001.11:3722053:A:C
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.3722054A>C, NC_000001.10:g.3638618A>C, NG_017035.2:g.74490A>C, NM_005427.4:c.463A>C, NM_005427.3:c.463A>C, NM_001126240.3:c.316A>C, NM_001126240.2:c.316A>C, NM_001126241.3:c.316A>C, NM_001126241.2:c.316A>C, NM_001126242.3:c.316A>C, NM_001126242.2:c.316A>C, NM_001204184.2:c.463A>C, NM_001204184.1:c.463A>C, NM_001204185.2:c.463A>C, NM_001204185.1:c.463A>C, NM_001204192.2:c.250A>C, NM_001204192.1:c.250A>C, NM_001204187.2:c.463A>C, NM_001204187.1:c.463A>C, NM_001204188.2:c.463A>C, NM_001204188.1:c.463A>C, NM_001204190.2:c.316A>C, NM_001204190.1:c.316A>C, NM_001204191.2:c.316A>C, NM_001204191.1:c.316A>C, NM_001204186.2:c.463A>C, NM_001204186.1:c.463A>C, NM_001204189.2:c.316A>C, NM_001204189.1:c.316A>C, XM_047429524.1:c.463A>C, XM_047429521.1:c.463A>C, NP_005418.1:p.Ile155Leu, NP_001119712.1:p.Ile106Leu, NP_001119713.1:p.Ile106Leu, NP_001119714.1:p.Ile106Leu, NP_001191113.1:p.Ile155Leu, NP_001191114.1:p.Ile155Leu, NP_001191121.1:p.Ile84Leu, NP_001191116.1:p.Ile155Leu, NP_001191117.1:p.Ile155Leu, NP_001191119.1:p.Ile106Leu, NP_001191120.1:p.Ile106Leu, NP_001191115.1:p.Ile155Leu, NP_001191118.1:p.Ile106Leu, XP_047285480.1:p.Ile155Leu, XP_047285477.1:p.Ile155Leu

Select item 14788855058.

rs1478885505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 1:3707628 (GRCh38)
1:3624193 (GRCh37)
Canonical SPDI:: NC_000001.11:3707628:CGCCGCC:CGCCGCCGCC
Gene:: TP73 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CGCCGCCGCC=0./0 (ALFA)
CGC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.3707630GCC[3], NC_000001.10:g.3624194GCC[3], NG_017035.2:g.60066GCC[3], NM_005427.4:c.268GCC[3], NM_005427.3:c.268GCC[3], NM_001126240.3:c.121GCC[3], NM_001126240.2:c.121GCC[3], NM_001126241.3:c.121GCC[3], NM_001126241.2:c.121GCC[3], NM_001126242.3:c.121GCC[3], NM_001126242.2:c.121GCC[3], NM_001204184.2:c.268GCC[3], NM_001204184.1:c.268GCC[3], NM_001204185.2:c.268GCC[3], NM_001204185.1:c.268GCC[3], NM_001204192.2:c.55GCC[3], NM_001204192.1:c.55GCC[3], NM_001204187.2:c.268GCC[3], NM_001204187.1:c.268GCC[3], NM_001204188.2:c.268GCC[3], NM_001204188.1:c.268GCC[3], NM_001204190.2:c.121GCC[3], NM_001204190.1:c.121GCC[3], NM_001204191.2:c.121GCC[3], NM_001204191.1:c.121GCC[3], NM_001204186.2:c.268GCC[3], NM_001204186.1:c.268GCC[3], NM_001204189.2:c.121GCC[3], NM_001204189.1:c.121GCC[3], XM_047429524.1:c.268GCC[3], XM_047429521.1:c.268GCC[3], NP_005418.1:p.Ala91dup, NP_001119712.1:p.Ala42dup, NP_001119713.1:p.Ala42dup, NP_001119714.1:p.Ala42dup, NP_001191113.1:p.Ala91dup, NP_001191114.1:p.Ala91dup, NP_001191121.1:p.Ala20dup, NP_001191116.1:p.Ala91dup, NP_001191117.1:p.Ala91dup, NP_001191119.1:p.Ala42dup, NP_001191120.1:p.Ala42dup, NP_001191115.1:p.Ala91dup, NP_001191118.1:p.Ala42dup, XP_047285480.1:p.Ala91dup, XP_047285477.1:p.Ala91dup

Select item 14758971229.

rs1475897122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:3732749 (GRCh38)
1:3649313 (GRCh37)
Canonical SPDI:: NC_000001.11:3732748:C:A
Gene:: TP73 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3732749C>A, NC_000001.10:g.3649313C>A, NG_017035.2:g.85185C>A, NM_005427.4:c.1581C>A, NM_005427.3:c.1581C>A, NM_001126240.3:c.1434C>A, NM_001126240.2:c.1434C>A, NM_001126241.3:c.1340C>A, NM_001126241.2:c.1340C>A, NM_001126242.3:c.*4C>A, NM_001126242.2:c.*4C>A, NM_001204184.2:c.1487C>A, NM_001204184.1:c.1487C>A, NM_001204185.2:c.*4C>A, NM_001204185.1:c.*4C>A, NM_001204192.2:c.1368C>A, NM_001204192.1:c.1368C>A, NM_001204187.2:c.1338C>A, NM_001204187.1:c.1338C>A, NM_001204188.2:c.1293C>A, NM_001204188.1:c.1293C>A, NM_001204190.2:c.1191C>A, NM_001204190.1:c.1191C>A, NM_001204191.2:c.1146C>A, NM_001204191.1:c.1146C>A, NM_001204186.2:c.1199C>A, NM_001204186.1:c.1199C>A, NM_001204189.2:c.1052C>A, NM_001204189.1:c.1052C>A, XM_047429524.1:c.1581C>A, XM_047429521.1:c.1581C>A, NP_005418.1:p.Asp527Glu, NP_001119712.1:p.Asp478Glu, NP_001119713.1:p.Thr447Asn, NP_001191113.1:p.Thr496Asn, NP_001191121.1:p.Asp456Glu, NP_001191116.1:p.Asp446Glu, NP_001191117.1:p.Asp431Glu, NP_001191119.1:p.Asp397Glu, NP_001191120.1:p.Asp382Glu, NP_001191115.1:p.Thr400Asn, NP_001191118.1:p.Thr351Asn, XP_047285480.1:p.Asp527Glu, XP_047285477.1:p.Asp527Glu

Select item 147444907310.

rs1474449073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:3729363 (GRCh38)
1:3645927 (GRCh37)
Canonical SPDI:: NC_000001.11:3729362:C:G,NC_000001.11:3729362:C:T
Gene:: TP73 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.3729363C>G, NC_000001.11:g.3729363C>T, NC_000001.10:g.3645927C>G, NC_000001.10:g.3645927C>T, NG_017035.2:g.81799C>G, NG_017035.2:g.81799C>T, NM_005427.4:c.1111C>G, NM_005427.4:c.1111C>T, NM_005427.3:c.1111C>G, NM_005427.3:c.1111C>T, NM_001126240.3:c.964C>G, NM_001126240.3:c.964C>T, NM_001126240.2:c.964C>G, NM_001126240.2:c.964C>T, NM_001126241.3:c.964C>G, NM_001126241.3:c.964C>T, NM_001126241.2:c.964C>G, NM_001126241.2:c.964C>T, NM_001126242.3:c.964C>G, NM_001126242.3:c.964C>T, NM_001126242.2:c.964C>G, NM_001126242.2:c.964C>T, NM_001204184.2:c.1111C>G, NM_001204184.2:c.1111C>T, NM_001204184.1:c.1111C>G, NM_001204184.1:c.1111C>T, NM_001204185.2:c.1111C>G, NM_001204185.2:c.1111C>T, NM_001204185.1:c.1111C>G, NM_001204185.1:c.1111C>T, NM_001204192.2:c.898C>G, NM_001204192.2:c.898C>T, NM_001204192.1:c.898C>G, NM_001204192.1:c.898C>T, NM_001204187.2:c.1111C>G, NM_001204187.2:c.1111C>T, NM_001204187.1:c.1111C>G, NM_001204187.1:c.1111C>T, NM_001204188.2:c.1111C>G, NM_001204188.2:c.1111C>T, NM_001204188.1:c.1111C>G, NM_001204188.1:c.1111C>T, NM_001204190.2:c.964C>G, NM_001204190.2:c.964C>T, NM_001204190.1:c.964C>G, NM_001204190.1:c.964C>T, NM_001204191.2:c.964C>G, NM_001204191.2:c.964C>T, NM_001204191.1:c.964C>G, NM_001204191.1:c.964C>T, NM_001204186.2:c.1111C>G, NM_001204186.2:c.1111C>T, NM_001204186.1:c.1111C>G, NM_001204186.1:c.1111C>T, NM_001204189.2:c.964C>G, NM_001204189.2:c.964C>T, NM_001204189.1:c.964C>G, NM_001204189.1:c.964C>T, XM_047429524.1:c.1111C>G, XM_047429524.1:c.1111C>T, XM_047429521.1:c.1111C>G, XM_047429521.1:c.1111C>T, NP_005418.1:p.Leu371Val, NP_001119712.1:p.Leu322Val, NP_001119713.1:p.Leu322Val, NP_001119714.1:p.Leu322Val, NP_001191113.1:p.Leu371Val, NP_001191114.1:p.Leu371Val, NP_001191121.1:p.Leu300Val, NP_001191116.1:p.Leu371Val, NP_001191117.1:p.Leu371Val, NP_001191119.1:p.Leu322Val, NP_001191120.1:p.Leu322Val, NP_001191115.1:p.Leu371Val, NP_001191118.1:p.Leu322Val, XP_047285480.1:p.Leu371Val, XP_047285477.1:p.Leu371Val

Select item 147440860311.

rs1474408603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:3728171 (GRCh38)
1:3644735 (GRCh37)
Canonical SPDI:: NC_000001.11:3728170:G:C
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.3728171G>C, NC_000001.10:g.3644735G>C, NG_017035.2:g.80607G>C, NM_005427.4:c.1028G>C, NM_005427.3:c.1028G>C, NM_001126240.3:c.881G>C, NM_001126240.2:c.881G>C, NM_001126241.3:c.881G>C, NM_001126241.2:c.881G>C, NM_001126242.3:c.881G>C, NM_001126242.2:c.881G>C, NM_001204184.2:c.1028G>C, NM_001204184.1:c.1028G>C, NM_001204185.2:c.1028G>C, NM_001204185.1:c.1028G>C, NM_001204192.2:c.815G>C, NM_001204192.1:c.815G>C, NM_001204187.2:c.1028G>C, NM_001204187.1:c.1028G>C, NM_001204188.2:c.1028G>C, NM_001204188.1:c.1028G>C, NM_001204190.2:c.881G>C, NM_001204190.1:c.881G>C, NM_001204191.2:c.881G>C, NM_001204191.1:c.881G>C, NM_001204186.2:c.1028G>C, NM_001204186.1:c.1028G>C, NM_001204189.2:c.881G>C, NM_001204189.1:c.881G>C, XM_047429524.1:c.1028G>C, XM_047429521.1:c.1028G>C, NP_005418.1:p.Gly343Ala, NP_001119712.1:p.Gly294Ala, NP_001119713.1:p.Gly294Ala, NP_001119714.1:p.Gly294Ala, NP_001191113.1:p.Gly343Ala, NP_001191114.1:p.Gly343Ala, NP_001191121.1:p.Gly272Ala, NP_001191116.1:p.Gly343Ala, NP_001191117.1:p.Gly343Ala, NP_001191119.1:p.Gly294Ala, NP_001191120.1:p.Gly294Ala, NP_001191115.1:p.Gly343Ala, NP_001191118.1:p.Gly294Ala, XP_047285480.1:p.Gly343Ala, XP_047285477.1:p.Gly343Ala

Select item 147187595212.

rs1471875952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:3723357 (GRCh38)
1:3639921 (GRCh37)
Canonical SPDI:: NC_000001.11:3723356:A:C
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.3723357A>C, NC_000001.10:g.3639921A>C, NG_017035.2:g.75793A>C, NM_005427.4:c.620A>C, NM_005427.3:c.620A>C, NM_001126240.3:c.473A>C, NM_001126240.2:c.473A>C, NM_001126241.3:c.473A>C, NM_001126241.2:c.473A>C, NM_001126242.3:c.473A>C, NM_001126242.2:c.473A>C, NM_001204184.2:c.620A>C, NM_001204184.1:c.620A>C, NM_001204185.2:c.620A>C, NM_001204185.1:c.620A>C, NM_001204192.2:c.407A>C, NM_001204192.1:c.407A>C, NM_001204187.2:c.620A>C, NM_001204187.1:c.620A>C, NM_001204188.2:c.620A>C, NM_001204188.1:c.620A>C, NM_001204190.2:c.473A>C, NM_001204190.1:c.473A>C, NM_001204191.2:c.473A>C, NM_001204191.1:c.473A>C, NM_001204186.2:c.620A>C, NM_001204186.1:c.620A>C, NM_001204189.2:c.473A>C, NM_001204189.1:c.473A>C, XM_047429524.1:c.620A>C, XM_047429521.1:c.620A>C, NP_005418.1:p.Gln207Pro, NP_001119712.1:p.Gln158Pro, NP_001119713.1:p.Gln158Pro, NP_001119714.1:p.Gln158Pro, NP_001191113.1:p.Gln207Pro, NP_001191114.1:p.Gln207Pro, NP_001191121.1:p.Gln136Pro, NP_001191116.1:p.Gln207Pro, NP_001191117.1:p.Gln207Pro, NP_001191119.1:p.Gln158Pro, NP_001191120.1:p.Gln158Pro, NP_001191115.1:p.Gln207Pro, NP_001191118.1:p.Gln158Pro, XP_047285480.1:p.Gln207Pro, XP_047285477.1:p.Gln207Pro

Select item 146965014913.

rs1469650149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAC [Show Flanks]
Chromosome:: 1:3727704 (GRCh38)
1:3644269 (GRCh37)
Canonical SPDI:: NC_000001.11:3727704:ACCAC:ACCACCAC
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: ACCACCAC=0./0 (ALFA)
ACC=0.000057/8 (GnomAD)
ACC=0.000132/35 (TOPMED)
HGVS:: NC_000001.11:g.3727707_3727709dup, NC_000001.10:g.3644271_3644273dup, NG_017035.2:g.80143_80145dup, NM_005427.4:c.922_924dup, NM_005427.3:c.922_924dup, NM_001126240.3:c.775_777dup, NM_001126240.2:c.775_777dup, NM_001126241.3:c.775_777dup, NM_001126241.2:c.775_777dup, NM_001126242.3:c.775_777dup, NM_001126242.2:c.775_777dup, NM_001204184.2:c.922_924dup, NM_001204184.1:c.922_924dup, NM_001204185.2:c.922_924dup, NM_001204185.1:c.922_924dup, NM_001204192.2:c.709_711dup, NM_001204192.1:c.709_711dup, NM_001204187.2:c.922_924dup, NM_001204187.1:c.922_924dup, NM_001204188.2:c.922_924dup, NM_001204188.1:c.922_924dup, NM_001204190.2:c.775_777dup, NM_001204190.1:c.775_777dup, NM_001204191.2:c.775_777dup, NM_001204191.1:c.775_777dup, NM_001204186.2:c.922_924dup, NM_001204186.1:c.922_924dup, NM_001204189.2:c.775_777dup, NM_001204189.1:c.775_777dup, XM_047429524.1:c.922_924dup, XM_047429521.1:c.922_924dup, NP_005418.1:p.His308dup, NP_001119712.1:p.His259dup, NP_001119713.1:p.His259dup, NP_001119714.1:p.His259dup, NP_001191113.1:p.His308dup, NP_001191114.1:p.His308dup, NP_001191121.1:p.His237dup, NP_001191116.1:p.His308dup, NP_001191117.1:p.His308dup, NP_001191119.1:p.His259dup, NP_001191120.1:p.His259dup, NP_001191115.1:p.His308dup, NP_001191118.1:p.His259dup, XP_047285480.1:p.His308dup, XP_047285477.1:p.His308dup

Select item 146797521114.

rs1467975211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:3722089 (GRCh38)
1:3638653 (GRCh37)
Canonical SPDI:: NC_000001.11:3722088:C:A,NC_000001.11:3722088:C:T
Gene:: TP73 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.3722089C>A, NC_000001.11:g.3722089C>T, NC_000001.10:g.3638653C>A, NC_000001.10:g.3638653C>T, NG_017035.2:g.74525C>A, NG_017035.2:g.74525C>T, NM_005427.4:c.498C>A, NM_005427.4:c.498C>T, NM_005427.3:c.498C>A, NM_005427.3:c.498C>T, NM_001126240.3:c.351C>A, NM_001126240.3:c.351C>T, NM_001126240.2:c.351C>A, NM_001126240.2:c.351C>T, NM_001126241.3:c.351C>A, NM_001126241.3:c.351C>T, NM_001126241.2:c.351C>A, NM_001126241.2:c.351C>T, NM_001126242.3:c.351C>A, NM_001126242.3:c.351C>T, NM_001126242.2:c.351C>A, NM_001126242.2:c.351C>T, NM_001204184.2:c.498C>A, NM_001204184.2:c.498C>T, NM_001204184.1:c.498C>A, NM_001204184.1:c.498C>T, NM_001204185.2:c.498C>A, NM_001204185.2:c.498C>T, NM_001204185.1:c.498C>A, NM_001204185.1:c.498C>T, NM_001204192.2:c.285C>A, NM_001204192.2:c.285C>T, NM_001204192.1:c.285C>A, NM_001204192.1:c.285C>T, NM_001204187.2:c.498C>A, NM_001204187.2:c.498C>T, NM_001204187.1:c.498C>A, NM_001204187.1:c.498C>T, NM_001204188.2:c.498C>A, NM_001204188.2:c.498C>T, NM_001204188.1:c.498C>A, NM_001204188.1:c.498C>T, NM_001204190.2:c.351C>A, NM_001204190.2:c.351C>T, NM_001204190.1:c.351C>A, NM_001204190.1:c.351C>T, NM_001204191.2:c.351C>A, NM_001204191.2:c.351C>T, NM_001204191.1:c.351C>A, NM_001204191.1:c.351C>T, NM_001204186.2:c.498C>A, NM_001204186.2:c.498C>T, NM_001204186.1:c.498C>A, NM_001204186.1:c.498C>T, NM_001204189.2:c.351C>A, NM_001204189.2:c.351C>T, NM_001204189.1:c.351C>A, NM_001204189.1:c.351C>T, XM_047429524.1:c.498C>A, XM_047429524.1:c.498C>T, XM_047429521.1:c.498C>A, XM_047429521.1:c.498C>T

Select item 146546741615.

rs1465467416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3728155 (GRCh38)
1:3644719 (GRCh37)
Canonical SPDI:: NC_000001.11:3728154:C:T
Gene:: TP73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3728155C>T, NC_000001.10:g.3644719C>T, NG_017035.2:g.80591C>T, NM_005427.4:c.1012C>T, NM_005427.3:c.1012C>T, NM_001126240.3:c.865C>T, NM_001126240.2:c.865C>T, NM_001126241.3:c.865C>T, NM_001126241.2:c.865C>T, NM_001126242.3:c.865C>T, NM_001126242.2:c.865C>T, NM_001204184.2:c.1012C>T, NM_001204184.1:c.1012C>T, NM_001204185.2:c.1012C>T, NM_001204185.1:c.1012C>T, NM_001204192.2:c.799C>T, NM_001204192.1:c.799C>T, NM_001204187.2:c.1012C>T, NM_001204187.1:c.1012C>T, NM_001204188.2:c.1012C>T, NM_001204188.1:c.1012C>T, NM_001204190.2:c.865C>T, NM_001204190.1:c.865C>T, NM_001204191.2:c.865C>T, NM_001204191.1:c.865C>T, NM_001204186.2:c.1012C>T, NM_001204186.1:c.1012C>T, NM_001204189.2:c.865C>T, NM_001204189.1:c.865C>T, XM_047429524.1:c.1012C>T, XM_047429521.1:c.1012C>T, NP_005418.1:p.Pro338Ser, NP_001119712.1:p.Pro289Ser, NP_001119713.1:p.Pro289Ser, NP_001119714.1:p.Pro289Ser, NP_001191113.1:p.Pro338Ser, NP_001191114.1:p.Pro338Ser, NP_001191121.1:p.Pro267Ser, NP_001191116.1:p.Pro338Ser, NP_001191117.1:p.Pro338Ser, NP_001191119.1:p.Pro289Ser, NP_001191120.1:p.Pro289Ser, NP_001191115.1:p.Pro338Ser, NP_001191118.1:p.Pro289Ser, XP_047285480.1:p.Pro338Ser, XP_047285477.1:p.Pro338Ser

Select item 146527489616.

rs1465274896 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:3728141 (GRCh38)
1:3644706 (GRCh37)
Canonical SPDI:: NC_000001.11:3728141:CCCCCC:CCCCCCC
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.3728147dup, NC_000001.10:g.3644711dup, NG_017035.2:g.80583dup, NM_005427.4:c.1004dup, NM_005427.3:c.1004dup, NM_001126240.3:c.857dup, NM_001126240.2:c.857dup, NM_001126241.3:c.857dup, NM_001126241.2:c.857dup, NM_001126242.3:c.857dup, NM_001126242.2:c.857dup, NM_001204184.2:c.1004dup, NM_001204184.1:c.1004dup, NM_001204185.2:c.1004dup, NM_001204185.1:c.1004dup, NM_001204192.2:c.791dup, NM_001204192.1:c.791dup, NM_001204187.2:c.1004dup, NM_001204187.1:c.1004dup, NM_001204188.2:c.1004dup, NM_001204188.1:c.1004dup, NM_001204190.2:c.857dup, NM_001204190.1:c.857dup, NM_001204191.2:c.857dup, NM_001204191.1:c.857dup, NM_001204186.2:c.1004dup, NM_001204186.1:c.1004dup, NM_001204189.2:c.857dup, NM_001204189.1:c.857dup, XM_047429524.1:c.1004dup, XM_047429521.1:c.1004dup, NP_005418.1:p.Ala336fs, NP_001119712.1:p.Ala287fs, NP_001119713.1:p.Ala287fs, NP_001119714.1:p.Ala287fs, NP_001191113.1:p.Ala336fs, NP_001191114.1:p.Ala336fs, NP_001191121.1:p.Ala265fs, NP_001191116.1:p.Ala336fs, NP_001191117.1:p.Ala336fs, NP_001191119.1:p.Ala287fs, NP_001191120.1:p.Ala287fs, NP_001191115.1:p.Ala336fs, NP_001191118.1:p.Ala287fs, XP_047285480.1:p.Ala336fs, XP_047285477.1:p.Ala336fs

Select item 146403419017.

rs1464034190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:3723382 (GRCh38)
1:3639946 (GRCh37)
Canonical SPDI:: NC_000001.11:3723381:C:T
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.3723382C>T, NC_000001.10:g.3639946C>T, NG_017035.2:g.75818C>T, NM_005427.4:c.645C>T, NM_005427.3:c.645C>T, NM_001126240.3:c.498C>T, NM_001126240.2:c.498C>T, NM_001126241.3:c.498C>T, NM_001126241.2:c.498C>T, NM_001126242.3:c.498C>T, NM_001126242.2:c.498C>T, NM_001204184.2:c.645C>T, NM_001204184.1:c.645C>T, NM_001204185.2:c.645C>T, NM_001204185.1:c.645C>T, NM_001204192.2:c.432C>T, NM_001204192.1:c.432C>T, NM_001204187.2:c.645C>T, NM_001204187.1:c.645C>T, NM_001204188.2:c.645C>T, NM_001204188.1:c.645C>T, NM_001204190.2:c.498C>T, NM_001204190.1:c.498C>T, NM_001204191.2:c.498C>T, NM_001204191.1:c.498C>T, NM_001204186.2:c.645C>T, NM_001204186.1:c.645C>T, NM_001204189.2:c.498C>T, NM_001204189.1:c.498C>T, XM_047429524.1:c.645C>T, XM_047429521.1:c.645C>T

Select item 145591741518.

rs1455917415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:3727752 (GRCh38)
1:3644316 (GRCh37)
Canonical SPDI:: NC_000001.11:3727751:G:A
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.3727752G>A, NC_000001.10:g.3644316G>A, NG_017035.2:g.80188G>A, NM_005427.4:c.967G>A, NM_005427.3:c.967G>A, NM_001126240.3:c.820G>A, NM_001126240.2:c.820G>A, NM_001126241.3:c.820G>A, NM_001126241.2:c.820G>A, NM_001126242.3:c.820G>A, NM_001126242.2:c.820G>A, NM_001204184.2:c.967G>A, NM_001204184.1:c.967G>A, NM_001204185.2:c.967G>A, NM_001204185.1:c.967G>A, NM_001204192.2:c.754G>A, NM_001204192.1:c.754G>A, NM_001204187.2:c.967G>A, NM_001204187.1:c.967G>A, NM_001204188.2:c.967G>A, NM_001204188.1:c.967G>A, NM_001204190.2:c.820G>A, NM_001204190.1:c.820G>A, NM_001204191.2:c.820G>A, NM_001204191.1:c.820G>A, NM_001204186.2:c.967G>A, NM_001204186.1:c.967G>A, NM_001204189.2:c.820G>A, NM_001204189.1:c.820G>A, XM_047429524.1:c.967G>A, XM_047429521.1:c.967G>A, NP_005418.1:p.Gly323Arg, NP_001119712.1:p.Gly274Arg, NP_001119713.1:p.Gly274Arg, NP_001119714.1:p.Gly274Arg, NP_001191113.1:p.Gly323Arg, NP_001191114.1:p.Gly323Arg, NP_001191121.1:p.Gly252Arg, NP_001191116.1:p.Gly323Arg, NP_001191117.1:p.Gly323Arg, NP_001191119.1:p.Gly274Arg, NP_001191120.1:p.Gly274Arg, NP_001191115.1:p.Gly323Arg, NP_001191118.1:p.Gly274Arg, XP_047285480.1:p.Gly323Arg, XP_047285477.1:p.Gly323Arg

Select item 145143313619.

rs1451433136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:3728172 (GRCh38)
1:3644736 (GRCh37)
Canonical SPDI:: NC_000001.11:3728171:T:C
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.3728172T>C, NC_000001.10:g.3644736T>C, NG_017035.2:g.80608T>C, NM_005427.4:c.1029T>C, NM_005427.3:c.1029T>C, NM_001126240.3:c.882T>C, NM_001126240.2:c.882T>C, NM_001126241.3:c.882T>C, NM_001126241.2:c.882T>C, NM_001126242.3:c.882T>C, NM_001126242.2:c.882T>C, NM_001204184.2:c.1029T>C, NM_001204184.1:c.1029T>C, NM_001204185.2:c.1029T>C, NM_001204185.1:c.1029T>C, NM_001204192.2:c.816T>C, NM_001204192.1:c.816T>C, NM_001204187.2:c.1029T>C, NM_001204187.1:c.1029T>C, NM_001204188.2:c.1029T>C, NM_001204188.1:c.1029T>C, NM_001204190.2:c.882T>C, NM_001204190.1:c.882T>C, NM_001204191.2:c.882T>C, NM_001204191.1:c.882T>C, NM_001204186.2:c.1029T>C, NM_001204186.1:c.1029T>C, NM_001204189.2:c.882T>C, NM_001204189.1:c.882T>C, XM_047429524.1:c.1029T>C, XM_047429521.1:c.1029T>C

Select item 144825052120.

rs1448250521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:3722150 (GRCh38)
1:3638714 (GRCh37)
Canonical SPDI:: NC_000001.11:3722149:G:A
Gene:: TP73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.3722150G>A, NC_000001.10:g.3638714G>A, NG_017035.2:g.74586G>A, NM_005427.4:c.559G>A, NM_005427.3:c.559G>A, NM_001126240.3:c.412G>A, NM_001126240.2:c.412G>A, NM_001126241.3:c.412G>A, NM_001126241.2:c.412G>A, NM_001126242.3:c.412G>A, NM_001126242.2:c.412G>A, NM_001204184.2:c.559G>A, NM_001204184.1:c.559G>A, NM_001204185.2:c.559G>A, NM_001204185.1:c.559G>A, NM_001204192.2:c.346G>A, NM_001204192.1:c.346G>A, NM_001204187.2:c.559G>A, NM_001204187.1:c.559G>A, NM_001204188.2:c.559G>A, NM_001204188.1:c.559G>A, NM_001204190.2:c.412G>A, NM_001204190.1:c.412G>A, NM_001204191.2:c.412G>A, NM_001204191.1:c.412G>A, NM_001204186.2:c.559G>A, NM_001204186.1:c.559G>A, NM_001204189.2:c.412G>A, NM_001204189.1:c.412G>A, XM_047429524.1:c.559G>A, XM_047429521.1:c.559G>A, NP_005418.1:p.Val187Met, NP_001119712.1:p.Val138Met, NP_001119713.1:p.Val138Met, NP_001119714.1:p.Val138Met, NP_001191113.1:p.Val187Met, NP_001191114.1:p.Val187Met, NP_001191121.1:p.Val116Met, NP_001191116.1:p.Val187Met, NP_001191117.1:p.Val187Met, NP_001191119.1:p.Val138Met, NP_001191120.1:p.Val138Met, NP_001191115.1:p.Val187Met, NP_001191118.1:p.Val138Met, XP_047285480.1:p.Val187Met, XP_047285477.1:p.Val187Met

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