SNP Links for Protein (Select 154800453) - SNP

Links from Protein

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Select item 14905161511.

rs1490516151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49331596 (GRCh38)
12:49725379 (GRCh37)
Canonical SPDI:: NC_000012.12:49331595:T:C
Gene:: TROAP (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49331596T>C, NC_000012.11:g.49725379T>C, NM_005480.4:c.2316T>C, NM_005480.3:c.2316T>C, XM_006719181.2:c.2586T>C, XM_011537723.2:c.2451T>C, XM_011537723.1:c.2451T>C, NM_001410976.1:c.2586T>C, XM_047428033.1:c.1710T>C, XM_047428032.1:c.1710T>C, XM_047428030.1:c.2181T>C

Select item 14905108172.

rs1490510817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49329886 (GRCh38)
12:49723669 (GRCh37)
Canonical SPDI:: NC_000012.12:49329885:G:A
Gene:: TROAP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000012.12:g.49329886G>A, NC_000012.11:g.49723669G>A, NM_005480.4:c.1194G>A, NM_005480.3:c.1194G>A, XM_006719181.2:c.1194G>A, NM_001410976.1:c.1194G>A, XM_047428033.1:c.318G>A, XM_047428032.1:c.318G>A, XM_047428031.1:c.1194G>A, XM_047428034.1:c.*33G>A

Select item 14899254403.

rs1489925440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49330768 (GRCh38)
12:49724551 (GRCh37)
Canonical SPDI:: NC_000012.12:49330767:G:A
Gene:: TROAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.49330768G>A, NC_000012.11:g.49724551G>A, NM_005480.4:c.1923G>A, NM_005480.3:c.1923G>A, XM_006719181.2:c.1923G>A, XM_011537723.2:c.1788G>A, XM_011537723.1:c.1788G>A, NM_001410976.1:c.1923G>A, XM_047428033.1:c.1047G>A, XM_047428032.1:c.1047G>A, XM_047428030.1:c.1788G>A

Select item 14891832324.

rs1489183232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:49323887 (GRCh38)
12:49717670 (GRCh37)
Canonical SPDI:: NC_000012.12:49323886:G:A,NC_000012.12:49323886:G:C
Gene:: TROAP (Varview), TROAP-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49323887G>A, NC_000012.12:g.49323887G>C, NC_000012.11:g.49717670G>A, NC_000012.11:g.49717670G>C, NM_005480.4:c.187G>A, NM_005480.4:c.187G>C, NM_005480.3:c.187G>A, NM_005480.3:c.187G>C, NM_001100620.3:c.187G>A, NM_001100620.3:c.187G>C, NM_001100620.2:c.187G>A, NM_001100620.2:c.187G>C, NM_001100620.1:c.187G>A, NM_001100620.1:c.187G>C, XM_006719181.2:c.187G>A, XM_006719181.2:c.187G>C, XM_011537723.2:c.187G>A, XM_011537723.2:c.187G>C, XM_011537723.1:c.187G>A, XM_011537723.1:c.187G>C, NM_001278324.2:c.187G>A, NM_001278324.2:c.187G>C, NM_001278324.1:c.187G>A, NM_001278324.1:c.187G>C, NM_001410976.1:c.187G>A, NM_001410976.1:c.187G>C, XM_047428032.1:c.-599G>A, XM_047428032.1:c.-599G>C, XM_047428030.1:c.187G>A, XM_047428030.1:c.187G>C, XM_047428031.1:c.187G>A, XM_047428031.1:c.187G>C, XM_047428034.1:c.187G>A, XM_047428034.1:c.187G>C, NP_005471.3:p.Val63Ile, NP_005471.3:p.Val63Leu, NP_001094090.1:p.Val63Ile, NP_001094090.1:p.Val63Leu, XP_006719244.1:p.Val63Ile, XP_006719244.1:p.Val63Leu, XP_011536025.1:p.Val63Ile, XP_011536025.1:p.Val63Leu, NP_001265253.1:p.Val63Ile, NP_001265253.1:p.Val63Leu, XP_047283986.1:p.Val63Ile, XP_047283986.1:p.Val63Leu, XP_047283987.1:p.Val63Ile, XP_047283987.1:p.Val63Leu, XP_047283990.1:p.Val63Ile, XP_047283990.1:p.Val63Leu

Select item 14888529235.

rs1488852923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49323624 (GRCh38)
12:49717407 (GRCh37)
Canonical SPDI:: NC_000012.12:49323623:G:A
Gene:: TROAP (Varview), TROAP-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49323624G>A, NC_000012.11:g.49717407G>A, NM_005480.4:c.16G>A, NM_005480.3:c.16G>A, NM_001100620.3:c.16G>A, NM_001100620.2:c.16G>A, NM_001100620.1:c.16G>A, XM_006719181.2:c.16G>A, XM_011537723.2:c.16G>A, XM_011537723.1:c.16G>A, NM_001278324.2:c.16G>A, NM_001278324.1:c.16G>A, NM_001410976.1:c.16G>A, XM_047428030.1:c.16G>A, XM_047428031.1:c.16G>A, XM_047428034.1:c.16G>A, NP_005471.3:p.Ala6Thr, NP_001094090.1:p.Ala6Thr, XP_006719244.1:p.Ala6Thr, XP_011536025.1:p.Ala6Thr, NP_001265253.1:p.Ala6Thr, XP_047283986.1:p.Ala6Thr, XP_047283987.1:p.Ala6Thr, XP_047283990.1:p.Ala6Thr

Select item 14857164136.

rs1485716413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49330816 (GRCh38)
12:49724599 (GRCh37)
Canonical SPDI:: NC_000012.12:49330815:T:C
Gene:: TROAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49330816T>C, NC_000012.11:g.49724599T>C, NM_005480.4:c.1971T>C, NM_005480.3:c.1971T>C, XM_006719181.2:c.1971T>C, XM_011537723.2:c.1836T>C, XM_011537723.1:c.1836T>C, NM_001410976.1:c.1971T>C, XM_047428033.1:c.1095T>C, XM_047428032.1:c.1095T>C, XM_047428030.1:c.1836T>C

Select item 14854630377.

rs1485463037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49326676 (GRCh38)
12:49720459 (GRCh37)
Canonical SPDI:: NC_000012.12:49326675:T:C
Gene:: TROAP (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000024/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49326676T>C, NC_000012.11:g.49720459T>C, NM_005480.4:c.725T>C, NM_005480.3:c.725T>C, XM_006719181.2:c.725T>C, XM_011537723.2:c.725T>C, XM_011537723.1:c.725T>C, NM_001410976.1:c.725T>C, XM_047428033.1:c.-152T>C, XM_047428032.1:c.-152T>C, XM_047428030.1:c.725T>C, XM_047428031.1:c.725T>C, XM_047428034.1:c.725T>C, NP_005471.3:p.Val242Ala, XP_006719244.1:p.Val242Ala, XP_011536025.1:p.Val242Ala, XP_047283986.1:p.Val242Ala, XP_047283987.1:p.Val242Ala, XP_047283990.1:p.Val242Ala

Select item 14851674118.

rs1485167411 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:49330913 (GRCh38)
12:49724696 (GRCh37)
Canonical SPDI:: NC_000012.12:49330912:CA:
Gene:: TROAP (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49330913_49330914del, NC_000012.11:g.49724696_49724697del, NM_005480.4:c.2068_2069del, NM_005480.3:c.2068_2069del, XM_006719181.2:c.2068_2069del, XM_011537723.2:c.1933_1934del, XM_011537723.1:c.1933_1934del, NM_001410976.1:c.2068_2069del, XM_047428033.1:c.1192_1193del, XM_047428032.1:c.1192_1193del, XM_047428030.1:c.1933_1934del, NP_005471.3:p.Gln690fs, XP_006719244.1:p.Gln690fs, XP_011536025.1:p.Gln645fs, XP_047283989.1:p.Gln398fs, XP_047283988.1:p.Gln398fs, XP_047283986.1:p.Gln645fs

Select item 14840547379.

rs1484054737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49330908 (GRCh38)
12:49724691 (GRCh37)
Canonical SPDI:: NC_000012.12:49330907:C:T
Gene:: TROAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.49330908C>T, NC_000012.11:g.49724691C>T, NM_005480.4:c.2063C>T, NM_005480.3:c.2063C>T, XM_006719181.2:c.2063C>T, XM_011537723.2:c.1928C>T, XM_011537723.1:c.1928C>T, NM_001410976.1:c.2063C>T, XM_047428033.1:c.1187C>T, XM_047428032.1:c.1187C>T, XM_047428030.1:c.1928C>T, NP_005471.3:p.Ser688Leu, XP_006719244.1:p.Ser688Leu, XP_011536025.1:p.Ser643Leu, XP_047283989.1:p.Ser396Leu, XP_047283988.1:p.Ser396Leu, XP_047283986.1:p.Ser643Leu

Select item 148287089710.

rs1482870897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49330362 (GRCh38)
12:49724145 (GRCh37)
Canonical SPDI:: NC_000012.12:49330361:C:T
Gene:: TROAP (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49330362C>T, NC_000012.11:g.49724145C>T, NM_005480.4:c.1517C>T, NM_005480.3:c.1517C>T, XM_006719181.2:c.1517C>T, XM_011537723.2:c.1382C>T, XM_011537723.1:c.1382C>T, NM_001410976.1:c.1517C>T, XM_047428033.1:c.641C>T, XM_047428032.1:c.641C>T, XM_047428030.1:c.1382C>T, XM_047428031.1:c.1517C>T, NP_005471.3:p.Pro506Leu, XP_006719244.1:p.Pro506Leu, XP_011536025.1:p.Pro461Leu, XP_047283989.1:p.Pro214Leu, XP_047283988.1:p.Pro214Leu, XP_047283986.1:p.Pro461Leu, XP_047283987.1:p.Pro506Leu

Select item 148242187611.

rs1482421876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49330551 (GRCh38)
12:49724334 (GRCh37)
Canonical SPDI:: NC_000012.12:49330550:C:T
Gene:: TROAP (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49330551C>T, NC_000012.11:g.49724334C>T, NM_005480.4:c.1706C>T, NM_005480.3:c.1706C>T, XM_006719181.2:c.1706C>T, XM_011537723.2:c.1571C>T, XM_011537723.1:c.1571C>T, NM_001410976.1:c.1706C>T, XM_047428033.1:c.830C>T, XM_047428032.1:c.830C>T, XM_047428030.1:c.1571C>T, XM_047428031.1:c.1706C>T, NP_005471.3:p.Ser569Phe, XP_006719244.1:p.Ser569Phe, XP_011536025.1:p.Ser524Phe, XP_047283989.1:p.Ser277Phe, XP_047283988.1:p.Ser277Phe, XP_047283986.1:p.Ser524Phe, XP_047283987.1:p.Ser569Phe

Select item 148185530012.

rs1481855300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTCGTCTGGACGA [Show Flanks]
Chromosome:: 12:49331291 (GRCh38)
12:49725075 (GRCh37)
Canonical SPDI:: NC_000012.12:49331291:ACGAGGCTCGTCTGGACGA:ACGAGGCTCGTCTGGACGAGGCTCGTCTGGACGA
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,inframe_insertion,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGAGGCTCGTCTGGACGAGGCTCGTCTGGACGA=0./0 (ALFA)
ACGAGGCTCGTCTGG=0.000004/1 (TOPMED)
ACGAGGCTCGTCTGG=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49331296_49331310dup, NC_000012.11:g.49725079_49725093dup, NM_005480.4:c.2181_2195dup, NM_005480.3:c.2181_2195dup, XM_006719181.2:c.2451_2465dup, XM_011537723.2:c.2316_2330dup, XM_011537723.1:c.2316_2330dup, NM_001410976.1:c.2451_2465dup, XM_047428033.1:c.1575_1589dup, XM_047428032.1:c.1575_1589dup, XM_047428030.1:c.2046_2060dup, XM_047428031.1:c.*53_*67dup, NP_005471.3:p.Glu727_Asp731dup, XP_006719244.1:p.Glu817_Asp821dup, XP_011536025.1:p.Glu772_Asp776dup, XP_047283989.1:p.Glu525_Asp529dup, XP_047283988.1:p.Glu525_Asp529dup, XP_047283986.1:p.Glu682_Asp686dup

Select item 147953615513.

rs1479536155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49330889 (GRCh38)
12:49724672 (GRCh37)
Canonical SPDI:: NC_000012.12:49330888:G:A
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49330889G>A, NC_000012.11:g.49724672G>A, NM_005480.4:c.2044G>A, NM_005480.3:c.2044G>A, XM_006719181.2:c.2044G>A, XM_011537723.2:c.1909G>A, XM_011537723.1:c.1909G>A, NM_001410976.1:c.2044G>A, XM_047428033.1:c.1168G>A, XM_047428032.1:c.1168G>A, XM_047428030.1:c.1909G>A, NP_005471.3:p.Ala682Thr, XP_006719244.1:p.Ala682Thr, XP_011536025.1:p.Ala637Thr, XP_047283989.1:p.Ala390Thr, XP_047283988.1:p.Ala390Thr, XP_047283986.1:p.Ala637Thr

Select item 147836096114.

rs1478360961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:49330745 (GRCh38)
12:49724528 (GRCh37)
Canonical SPDI:: NC_000012.12:49330744:G:A,NC_000012.12:49330744:G:C
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.49330745G>A, NC_000012.12:g.49330745G>C, NC_000012.11:g.49724528G>A, NC_000012.11:g.49724528G>C, NM_005480.4:c.1900G>A, NM_005480.4:c.1900G>C, NM_005480.3:c.1900G>A, NM_005480.3:c.1900G>C, XM_006719181.2:c.1900G>A, XM_006719181.2:c.1900G>C, XM_011537723.2:c.1765G>A, XM_011537723.2:c.1765G>C, XM_011537723.1:c.1765G>A, XM_011537723.1:c.1765G>C, NM_001410976.1:c.1900G>A, NM_001410976.1:c.1900G>C, XM_047428033.1:c.1024G>A, XM_047428033.1:c.1024G>C, XM_047428032.1:c.1024G>A, XM_047428032.1:c.1024G>C, XM_047428030.1:c.1765G>A, XM_047428030.1:c.1765G>C, NP_005471.3:p.Gly634Arg, NP_005471.3:p.Gly634Arg, XP_006719244.1:p.Gly634Arg, XP_006719244.1:p.Gly634Arg, XP_011536025.1:p.Gly589Arg, XP_011536025.1:p.Gly589Arg, XP_047283989.1:p.Gly342Arg, XP_047283989.1:p.Gly342Arg, XP_047283988.1:p.Gly342Arg, XP_047283988.1:p.Gly342Arg, XP_047283986.1:p.Gly589Arg, XP_047283986.1:p.Gly589Arg

Select item 147683105515.

rs1476831055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49329419 (GRCh38)
12:49723202 (GRCh37)
Canonical SPDI:: NC_000012.12:49329418:C:T
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49329419C>T, NC_000012.11:g.49723202C>T, NM_005480.4:c.1129C>T, NM_005480.3:c.1129C>T, XM_006719181.2:c.1129C>T, XM_011537723.2:c.1129C>T, XM_011537723.1:c.1129C>T, NM_001410976.1:c.1129C>T, XM_047428033.1:c.253C>T, XM_047428032.1:c.253C>T, XM_047428030.1:c.1129C>T, XM_047428031.1:c.1129C>T, XM_047428034.1:c.1129C>T, NP_005471.3:p.Pro377Ser, XP_006719244.1:p.Pro377Ser, XP_011536025.1:p.Pro377Ser, XP_047283989.1:p.Pro85Ser, XP_047283988.1:p.Pro85Ser, XP_047283986.1:p.Pro377Ser, XP_047283987.1:p.Pro377Ser, XP_047283990.1:p.Pro377Ser

Select item 147603853116.

rs1476038531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49330640 (GRCh38)
12:49724423 (GRCh37)
Canonical SPDI:: NC_000012.12:49330639:A:G
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49330640A>G, NC_000012.11:g.49724423A>G, NM_005480.4:c.1795A>G, NM_005480.3:c.1795A>G, XM_006719181.2:c.1795A>G, XM_011537723.2:c.1660A>G, XM_011537723.1:c.1660A>G, NM_001410976.1:c.1795A>G, XM_047428033.1:c.919A>G, XM_047428032.1:c.919A>G, XM_047428030.1:c.1660A>G, XM_047428031.1:c.1795A>G, NP_005471.3:p.Ile599Val, XP_006719244.1:p.Ile599Val, XP_011536025.1:p.Ile554Val, XP_047283989.1:p.Ile307Val, XP_047283988.1:p.Ile307Val, XP_047283986.1:p.Ile554Val, XP_047283987.1:p.Ile599Val

Select item 147533685617.

rs1475336856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49327328 (GRCh38)
12:49721111 (GRCh37)
Canonical SPDI:: NC_000012.12:49327327:A:G
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49327328A>G, NC_000012.11:g.49721111A>G, NM_005480.4:c.889A>G, NM_005480.3:c.889A>G, XM_006719181.2:c.889A>G, XM_011537723.2:c.889A>G, XM_011537723.1:c.889A>G, NM_001410976.1:c.889A>G, XM_047428033.1:c.13A>G, XM_047428032.1:c.13A>G, XM_047428030.1:c.889A>G, XM_047428031.1:c.889A>G, XM_047428034.1:c.889A>G, NP_005471.3:p.Arg297Gly, XP_006719244.1:p.Arg297Gly, XP_011536025.1:p.Arg297Gly, XP_047283989.1:p.Arg5Gly, XP_047283988.1:p.Arg5Gly, XP_047283986.1:p.Arg297Gly, XP_047283987.1:p.Arg297Gly, XP_047283990.1:p.Arg297Gly

Select item 147369812218.

rs1473698122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49330176 (GRCh38)
12:49723959 (GRCh37)
Canonical SPDI:: NC_000012.12:49330175:A:G
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49330176A>G, NC_000012.11:g.49723959A>G, NM_005480.4:c.1331A>G, NM_005480.3:c.1331A>G, XM_006719181.2:c.1331A>G, XM_011537723.2:c.1196A>G, XM_011537723.1:c.1196A>G, NM_001410976.1:c.1331A>G, XM_047428033.1:c.455A>G, XM_047428032.1:c.455A>G, XM_047428030.1:c.1196A>G, XM_047428031.1:c.1331A>G, NP_005471.3:p.Gln444Arg, XP_006719244.1:p.Gln444Arg, XP_011536025.1:p.Gln399Arg, XP_047283989.1:p.Gln152Arg, XP_047283988.1:p.Gln152Arg, XP_047283986.1:p.Gln399Arg, XP_047283987.1:p.Gln444Arg

Select item 147155779919.

rs1471557799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49330184 (GRCh38)
12:49723967 (GRCh37)
Canonical SPDI:: NC_000012.12:49330183:G:A
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.49330184G>A, NC_000012.11:g.49723967G>A, NM_005480.4:c.1339G>A, NM_005480.3:c.1339G>A, XM_006719181.2:c.1339G>A, XM_011537723.2:c.1204G>A, XM_011537723.1:c.1204G>A, NM_001410976.1:c.1339G>A, XM_047428033.1:c.463G>A, XM_047428032.1:c.463G>A, XM_047428030.1:c.1204G>A, XM_047428031.1:c.1339G>A, NP_005471.3:p.Glu447Lys, XP_006719244.1:p.Glu447Lys, XP_011536025.1:p.Glu402Lys, XP_047283989.1:p.Glu155Lys, XP_047283988.1:p.Glu155Lys, XP_047283986.1:p.Glu402Lys, XP_047283987.1:p.Glu447Lys

Select item 147029974120.

rs1470299741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:49331367 (GRCh38)
12:49725150 (GRCh37)
Canonical SPDI:: NC_000012.12:49331366:C:G,NC_000012.12:49331366:C:T
Gene:: TROAP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49331367C>G, NC_000012.12:g.49331367C>T, NC_000012.11:g.49725150C>G, NC_000012.11:g.49725150C>T, NM_005480.4:c.2252C>G, NM_005480.4:c.2252C>T, NM_005480.3:c.2252C>G, NM_005480.3:c.2252C>T, XM_006719181.2:c.2522C>G, XM_006719181.2:c.2522C>T, XM_011537723.2:c.2387C>G, XM_011537723.2:c.2387C>T, XM_011537723.1:c.2387C>G, XM_011537723.1:c.2387C>T, NM_001410976.1:c.2522C>G, NM_001410976.1:c.2522C>T, XM_047428033.1:c.1646C>G, XM_047428033.1:c.1646C>T, XM_047428032.1:c.1646C>G, XM_047428032.1:c.1646C>T, XM_047428030.1:c.2117C>G, XM_047428030.1:c.2117C>T, NP_005471.3:p.Thr751Ser, NP_005471.3:p.Thr751Ile, XP_006719244.1:p.Thr841Ser, XP_006719244.1:p.Thr841Ile, XP_011536025.1:p.Thr796Ser, XP_011536025.1:p.Thr796Ile, XP_047283989.1:p.Thr549Ser, XP_047283989.1:p.Thr549Ile, XP_047283988.1:p.Thr549Ser, XP_047283988.1:p.Thr549Ile, XP_047283986.1:p.Thr706Ser, XP_047283986.1:p.Thr706Ile

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