SNP Links for Protein (Select 1034605844) - SNP

Links from Protein

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Select item 14881583581.

rs1488158358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45395542 (GRCh38)
19:45898800 (GRCh37)
Canonical SPDI:: NC_000019.10:45395541:T:C
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45395542T>C, NC_000019.9:g.45898800T>C, NM_006663.4:c.1248A>G, NM_006663.3:c.1248A>G, XM_017026178.2:c.1248A>G, XM_017026178.1:c.1248A>G, XM_017026177.2:c.1248A>G, XM_017026177.1:c.1248A>G, NM_001142502.2:c.1248A>G, NM_001142502.1:c.1248A>G, XM_017026179.2:c.1248A>G, XM_017026179.1:c.1248A>G

Select item 14867386262.

rs1486738626 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:45396343 (GRCh38)
19:45899601 (GRCh37)
Canonical SPDI:: NC_000019.10:45396342:T:
Gene:: PPP1R13L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45396343del, NC_000019.9:g.45899601del, NM_006663.4:c.806del, NM_006663.3:c.806del, XM_017026178.2:c.806del, XM_017026178.1:c.806del, XM_017026177.2:c.806del, XM_017026177.1:c.806del, NM_001142502.2:c.806del, NM_001142502.1:c.806del, XM_017026179.2:c.806del, XM_017026179.1:c.806del, NP_006654.2:p.Tyr269fs, XP_016881667.1:p.Tyr269fs, XP_016881666.1:p.Tyr269fs, NP_001135974.1:p.Tyr269fs, XP_016881668.1:p.Tyr269fs

Select item 14847808343.

rs1484780834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:45396839 (GRCh38)
19:45900097 (GRCh37)
Canonical SPDI:: NC_000019.10:45396838:A:C,NC_000019.10:45396838:A:G
Gene:: PPP1R13L (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)
HGVS:: NC_000019.10:g.45396839A>C, NC_000019.10:g.45396839A>G, NC_000019.9:g.45900097A>C, NC_000019.9:g.45900097A>G, NM_006663.4:c.418T>G, NM_006663.4:c.418T>C, NM_006663.3:c.418T>G, NM_006663.3:c.418T>C, XM_017026178.2:c.418T>G, XM_017026178.2:c.418T>C, XM_017026178.1:c.418T>G, XM_017026178.1:c.418T>C, XM_017026177.2:c.418T>G, XM_017026177.2:c.418T>C, XM_017026177.1:c.418T>G, XM_017026177.1:c.418T>C, NM_001142502.2:c.418T>G, NM_001142502.2:c.418T>C, NM_001142502.1:c.418T>G, NM_001142502.1:c.418T>C, XM_017026179.2:c.418T>G, XM_017026179.2:c.418T>C, XM_017026179.1:c.418T>G, XM_017026179.1:c.418T>C, NP_006654.2:p.Ser140Ala, NP_006654.2:p.Ser140Pro, XP_016881667.1:p.Ser140Ala, XP_016881667.1:p.Ser140Pro, XP_016881666.1:p.Ser140Ala, XP_016881666.1:p.Ser140Pro, NP_001135974.1:p.Ser140Ala, NP_001135974.1:p.Ser140Pro, XP_016881668.1:p.Ser140Ala, XP_016881668.1:p.Ser140Pro

Select item 14811109784.

rs1481110978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45395464 (GRCh38)
19:45898722 (GRCh37)
Canonical SPDI:: NC_000019.10:45395463:G:A
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45395464G>A, NC_000019.9:g.45898722G>A, NM_006663.4:c.1326C>T, NM_006663.3:c.1326C>T, XM_017026178.2:c.1326C>T, XM_017026178.1:c.1326C>T, XM_017026177.2:c.1326C>T, XM_017026177.1:c.1326C>T, NM_001142502.2:c.1326C>T, NM_001142502.1:c.1326C>T, XM_017026179.2:c.1326C>T, XM_017026179.1:c.1326C>T

Select item 14810739145.

rs1481073914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45395824 (GRCh38)
19:45899082 (GRCh37)
Canonical SPDI:: NC_000019.10:45395823:C:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45395824C>T, NC_000019.9:g.45899082C>T, NM_006663.4:c.966G>A, NM_006663.3:c.966G>A, XM_017026178.2:c.966G>A, XM_017026178.1:c.966G>A, XM_017026177.2:c.966G>A, XM_017026177.1:c.966G>A, NM_001142502.2:c.966G>A, NM_001142502.1:c.966G>A, XM_017026179.2:c.966G>A, XM_017026179.1:c.966G>A

Select item 14809656746.

rs1480965674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45395794 (GRCh38)
19:45899052 (GRCh37)
Canonical SPDI:: NC_000019.10:45395793:C:A,NC_000019.10:45395793:C:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.45395794C>A, NC_000019.10:g.45395794C>T, NC_000019.9:g.45899052C>A, NC_000019.9:g.45899052C>T, NM_006663.4:c.996G>T, NM_006663.4:c.996G>A, NM_006663.3:c.996G>T, NM_006663.3:c.996G>A, XM_017026178.2:c.996G>T, XM_017026178.2:c.996G>A, XM_017026178.1:c.996G>T, XM_017026178.1:c.996G>A, XM_017026177.2:c.996G>T, XM_017026177.2:c.996G>A, XM_017026177.1:c.996G>T, XM_017026177.1:c.996G>A, NM_001142502.2:c.996G>T, NM_001142502.2:c.996G>A, NM_001142502.1:c.996G>T, NM_001142502.1:c.996G>A, XM_017026179.2:c.996G>T, XM_017026179.2:c.996G>A, XM_017026179.1:c.996G>T, XM_017026179.1:c.996G>A

Select item 14801877757.

rs1480187775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45382581 (GRCh38)
19:45885839 (GRCh37)
Canonical SPDI:: NC_000019.10:45382580:C:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45382581C>T, NC_000019.9:g.45885839C>T, NM_006663.4:c.2394G>A, NM_006663.3:c.2394G>A, XM_017026178.2:c.2394G>A, XM_017026178.1:c.2394G>A, XM_017026177.2:c.2394G>A, XM_017026177.1:c.2394G>A, NM_001142502.2:c.2394G>A, NM_001142502.1:c.2394G>A, NP_006654.2:p.Trp798Ter, XP_016881667.1:p.Trp798Ter, XP_016881666.1:p.Trp798Ter, NP_001135974.1:p.Trp798Ter

Select item 14799786588.

rs1479978658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45396186 (GRCh38)
19:45899444 (GRCh37)
Canonical SPDI:: NC_000019.10:45396185:T:C
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45396186T>C, NC_000019.9:g.45899444T>C, NM_006663.4:c.885A>G, NM_006663.3:c.885A>G, XM_017026178.2:c.885A>G, XM_017026178.1:c.885A>G, XM_017026177.2:c.885A>G, XM_017026177.1:c.885A>G, NM_001142502.2:c.885A>G, NM_001142502.1:c.885A>G, XM_017026179.2:c.885A>G, XM_017026179.1:c.885A>G

Select item 14792201689.

rs1479220168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45395712 (GRCh38)
19:45898970 (GRCh37)
Canonical SPDI:: NC_000019.10:45395711:G:A
Gene:: PPP1R13L (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000019.10:g.45395712G>A, NC_000019.9:g.45898970G>A, NM_006663.4:c.1078C>T, NM_006663.3:c.1078C>T, XM_017026178.2:c.1078C>T, XM_017026178.1:c.1078C>T, XM_017026177.2:c.1078C>T, XM_017026177.1:c.1078C>T, NM_001142502.2:c.1078C>T, NM_001142502.1:c.1078C>T, XM_017026179.2:c.1078C>T, XM_017026179.1:c.1078C>T, NP_006654.2:p.Gln360Ter, XP_016881667.1:p.Gln360Ter, XP_016881666.1:p.Gln360Ter, NP_001135974.1:p.Gln360Ter, XP_016881668.1:p.Gln360Ter

Select item 147879143110.

rs1478791431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45392094 (GRCh38)
19:45895352 (GRCh37)
Canonical SPDI:: NC_000019.10:45392093:G:A
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45392094G>A, NC_000019.9:g.45895352G>A, NM_006663.4:c.1601C>T, NM_006663.3:c.1601C>T, XM_017026178.2:c.1601C>T, XM_017026178.1:c.1601C>T, XM_017026177.2:c.1601C>T, XM_017026177.1:c.1601C>T, NM_001142502.2:c.1601C>T, NM_001142502.1:c.1601C>T, XM_017026179.2:c.1601C>T, XM_017026179.1:c.1601C>T, NP_006654.2:p.Ala534Val, XP_016881667.1:p.Ala534Val, XP_016881666.1:p.Ala534Val, NP_001135974.1:p.Ala534Val, XP_016881668.1:p.Ala534Val

Select item 147798327111.

rs1477983271 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:45396847 (GRCh38)
19:45900105 (GRCh37)
Canonical SPDI:: NC_000019.10:45396842:CGCGCG:CGCG
Gene:: PPP1R13L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CGCG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45396843CG[2], NC_000019.9:g.45900101CG[2], NM_006663.4:c.413_414del, NM_006663.3:c.413_414del, XM_017026178.2:c.413_414del, XM_017026178.1:c.413_414del, XM_017026177.2:c.413_414del, XM_017026177.1:c.413_414del, NM_001142502.2:c.413_414del, NM_001142502.1:c.413_414del, XM_017026179.2:c.413_414del, XM_017026179.1:c.413_414del, NP_006654.2:p.Ala138fs, XP_016881667.1:p.Ala138fs, XP_016881666.1:p.Ala138fs, NP_001135974.1:p.Ala138fs, XP_016881668.1:p.Ala138fs

Select item 147788068412.

rs1477880684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45386116 (GRCh38)
19:45889374 (GRCh37)
Canonical SPDI:: NC_000019.10:45386115:G:A,NC_000019.10:45386115:G:C
Gene:: PPP1R13L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45386116G>A, NC_000019.10:g.45386116G>C, NC_000019.9:g.45889374G>A, NC_000019.9:g.45889374G>C, NM_006663.4:c.1880C>T, NM_006663.4:c.1880C>G, NM_006663.3:c.1880C>T, NM_006663.3:c.1880C>G, XM_017026178.2:c.1880C>T, XM_017026178.2:c.1880C>G, XM_017026178.1:c.1880C>T, XM_017026178.1:c.1880C>G, XM_017026177.2:c.1880C>T, XM_017026177.2:c.1880C>G, XM_017026177.1:c.1880C>T, XM_017026177.1:c.1880C>G, NM_001142502.2:c.1880C>T, NM_001142502.2:c.1880C>G, NM_001142502.1:c.1880C>T, NM_001142502.1:c.1880C>G, NP_006654.2:p.Pro627Leu, NP_006654.2:p.Pro627Arg, XP_016881667.1:p.Pro627Leu, XP_016881667.1:p.Pro627Arg, XP_016881666.1:p.Pro627Leu, XP_016881666.1:p.Pro627Arg, NP_001135974.1:p.Pro627Leu, NP_001135974.1:p.Pro627Arg

Select item 147660058813.

rs1476600588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:45392277 (GRCh38)
19:45895535 (GRCh37)
Canonical SPDI:: NC_000019.10:45392276:A:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45392277A>T, NC_000019.9:g.45895535A>T, NM_006663.4:c.1418T>A, NM_006663.3:c.1418T>A, XM_017026178.2:c.1418T>A, XM_017026178.1:c.1418T>A, XM_017026177.2:c.1418T>A, XM_017026177.1:c.1418T>A, NM_001142502.2:c.1418T>A, NM_001142502.1:c.1418T>A, XM_017026179.2:c.1418T>A, XM_017026179.1:c.1418T>A, NP_006654.2:p.Val473Glu, XP_016881667.1:p.Val473Glu, XP_016881666.1:p.Val473Glu, NP_001135974.1:p.Val473Glu, XP_016881668.1:p.Val473Glu

Select item 147602282914.

rs1476022829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45392171 (GRCh38)
19:45895429 (GRCh37)
Canonical SPDI:: NC_000019.10:45392170:C:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45392171C>T, NC_000019.9:g.45895429C>T, NM_006663.4:c.1524G>A, NM_006663.3:c.1524G>A, XM_017026178.2:c.1524G>A, XM_017026178.1:c.1524G>A, XM_017026177.2:c.1524G>A, XM_017026177.1:c.1524G>A, NM_001142502.2:c.1524G>A, NM_001142502.1:c.1524G>A, XM_017026179.2:c.1524G>A, XM_017026179.1:c.1524G>A

Select item 147547752715.

rs1475477527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45382559 (GRCh38)
19:45885817 (GRCh37)
Canonical SPDI:: NC_000019.10:45382558:G:A
Gene:: PPP1R13L (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45382559G>A, NC_000019.9:g.45885817G>A, NM_006663.4:c.2416C>T, NM_006663.3:c.2416C>T, XM_017026178.2:c.2416C>T, XM_017026178.1:c.2416C>T, XM_017026177.2:c.2416C>T, XM_017026177.1:c.2416C>T, NM_001142502.2:c.2416C>T, NM_001142502.1:c.2416C>T, NP_006654.2:p.Gln806Ter, XP_016881667.1:p.Gln806Ter, XP_016881666.1:p.Gln806Ter, NP_001135974.1:p.Gln806Ter

Select item 147530108816.

rs1475301088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:45395832 (GRCh38)
19:45899090 (GRCh37)
Canonical SPDI:: NC_000019.10:45395831:T:G
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45395832T>G, NC_000019.9:g.45899090T>G, NM_006663.4:c.958A>C, NM_006663.3:c.958A>C, XM_017026178.2:c.958A>C, XM_017026178.1:c.958A>C, XM_017026177.2:c.958A>C, XM_017026177.1:c.958A>C, NM_001142502.2:c.958A>C, NM_001142502.1:c.958A>C, XM_017026179.2:c.958A>C, XM_017026179.1:c.958A>C, NP_006654.2:p.Ser320Arg, XP_016881667.1:p.Ser320Arg, XP_016881666.1:p.Ser320Arg, NP_001135974.1:p.Ser320Arg, XP_016881668.1:p.Ser320Arg

Select item 147454574717.

rs1474545747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45386180 (GRCh38)
19:45889438 (GRCh37)
Canonical SPDI:: NC_000019.10:45386179:C:T
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45386180C>T, NC_000019.9:g.45889438C>T, NM_006663.4:c.1816G>A, NM_006663.3:c.1816G>A, XM_017026178.2:c.1816G>A, XM_017026178.1:c.1816G>A, XM_017026177.2:c.1816G>A, XM_017026177.1:c.1816G>A, NM_001142502.2:c.1816G>A, NM_001142502.1:c.1816G>A, XM_017026179.2:c.*22G>A, XM_017026179.1:c.*22G>A, NP_006654.2:p.Glu606Lys, XP_016881667.1:p.Glu606Lys, XP_016881666.1:p.Glu606Lys, NP_001135974.1:p.Glu606Lys

Select item 147420721218.

rs1474207212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:45391915 (GRCh38)
19:45895173 (GRCh37)
Canonical SPDI:: NC_000019.10:45391914:A:C
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45391915A>C, NC_000019.9:g.45895173A>C, NM_006663.4:c.1780T>G, NM_006663.3:c.1780T>G, XM_017026178.2:c.1780T>G, XM_017026178.1:c.1780T>G, XM_017026177.2:c.1780T>G, XM_017026177.1:c.1780T>G, NM_001142502.2:c.1780T>G, NM_001142502.1:c.1780T>G, XM_017026179.2:c.1780T>G, XM_017026179.1:c.1780T>G, NP_006654.2:p.Ser594Ala, XP_016881667.1:p.Ser594Ala, XP_016881666.1:p.Ser594Ala, NP_001135974.1:p.Ser594Ala, XP_016881668.1:p.Ser594Ala

Select item 147377038219.

rs1473770382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45396419 (GRCh38)
19:45899677 (GRCh37)
Canonical SPDI:: NC_000019.10:45396418:G:A,NC_000019.10:45396418:G:C
Gene:: PPP1R13L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45396419G>A, NC_000019.10:g.45396419G>C, NC_000019.9:g.45899677G>A, NC_000019.9:g.45899677G>C, NM_006663.4:c.730C>T, NM_006663.4:c.730C>G, NM_006663.3:c.730C>T, NM_006663.3:c.730C>G, XM_017026178.2:c.730C>T, XM_017026178.2:c.730C>G, XM_017026178.1:c.730C>T, XM_017026178.1:c.730C>G, XM_017026177.2:c.730C>T, XM_017026177.2:c.730C>G, XM_017026177.1:c.730C>T, XM_017026177.1:c.730C>G, NM_001142502.2:c.730C>T, NM_001142502.2:c.730C>G, NM_001142502.1:c.730C>T, NM_001142502.1:c.730C>G, XM_017026179.2:c.730C>T, XM_017026179.2:c.730C>G, XM_017026179.1:c.730C>T, XM_017026179.1:c.730C>G, NP_006654.2:p.Arg244Trp, NP_006654.2:p.Arg244Gly, XP_016881667.1:p.Arg244Trp, XP_016881667.1:p.Arg244Gly, XP_016881666.1:p.Arg244Trp, XP_016881666.1:p.Arg244Gly, NP_001135974.1:p.Arg244Trp, NP_001135974.1:p.Arg244Gly, XP_016881668.1:p.Arg244Trp, XP_016881668.1:p.Arg244Gly

Select item 147311842320.

rs1473118423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45385900 (GRCh38)
19:45889158 (GRCh37)
Canonical SPDI:: NC_000019.10:45385899:A:G
Gene:: PPP1R13L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45385900A>G, NC_000019.9:g.45889158A>G, NM_006663.4:c.2005T>C, NM_006663.3:c.2005T>C, XM_017026178.2:c.2005T>C, XM_017026178.1:c.2005T>C, XM_017026177.2:c.2005T>C, XM_017026177.1:c.2005T>C, NM_001142502.2:c.2005T>C, NM_001142502.1:c.2005T>C, NP_006654.2:p.Cys669Arg, XP_016881667.1:p.Cys669Arg, XP_016881666.1:p.Cys669Arg, NP_001135974.1:p.Cys669Arg

dbSNP

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