Linked Data
ClinVar Variation Id:
788853
ClinVar RCV Id:
RCV000971359
dbSNP Id:
rs80191780
ExAC:
3:175189480 T / G
gnomAD v2:
3-175189480-T-G
gnomAD v3:
3-175471692-T-G
gnomAD v4:
3-175471692-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.175471692T>G , CM000665.2:g.175471692T>G | GRCh38 |
| NC_000003.11:g.175189480T>G , CM000665.1:g.175189480T>G | GRCh37 |
| NC_000003.10:g.176672174T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454872.6:c.1587T>G MANE Select | ENSP00000404705.1:p.Ser529Arg | |
| ENST00000414826.1:c.748T>G | ENSP00000396969.1:n.748T>G | |
| ENST00000454872.5:c.1587T>G | ENSP00000404705.1:p.Ser529Arg | |
| ENST00000473253.5:n.1819T>G | ||
| ENST00000489299.5:n.1182T>G | ||
| ENST00000614002.4:c.1551T>G | ENSP00000479989.1:p.Ser517Arg | |
| NM_207015.2:c.1587T>G | NP_996898.2:p.Ser529Arg | |
| XM_006713560.2:c.1536T>G | XP_006713623.1:p.Ser512Arg | |
| XM_011512612.1:c.1617T>G | XP_011510914.1:p.Ser539Arg | |
| XM_011512613.1:c.1566T>G | XP_011510915.1:p.Ser522Arg | |
| XM_011512614.1:c.1536T>G | XP_011510916.1:p.Ser512Arg | |
| XM_011512615.1:c.1473T>G | XP_011510917.1:p.Ser491Arg | |
| XM_011512616.1:c.1068T>G | XP_011510918.1:p.Ser356Arg | |
| XM_011512617.1:c.1617T>G | XP_011510919.1:p.Ser539Arg | |
| XM_006713560.3:c.1536T>G | XP_006713623.1:p.Ser512Arg | |
| XM_011512612.3:c.1617T>G | XP_011510914.1:p.Ser539Arg | |
| XM_011512613.2:c.1566T>G | XP_011510915.1:p.Ser522Arg | |
| XM_011512615.3:c.1473T>G | XP_011510917.1:p.Ser491Arg | |
| XM_011512616.3:c.1068T>G | XP_011510918.1:p.Ser356Arg | |
| XM_011512617.3:c.1617T>G | XP_011510919.1:p.Ser539Arg | |
| XM_017006070.2:c.1536T>G | XP_016861559.1:p.Ser512Arg | |
| XM_017006071.2:c.1536T>G | XP_016861560.1:p.Ser512Arg | |
| XM_017006072.2:c.1536T>G | XP_016861561.1:p.Ser512Arg | |
| XM_017006073.2:c.1536T>G | XP_016861562.1:p.Ser512Arg | |
| XM_017006074.2:c.1536T>G | XP_016861563.1:p.Ser512Arg | |
| XM_017006075.2:c.1536T>G | XP_016861564.1:p.Ser512Arg | |
| XM_017006076.2:c.1536T>G | XP_016861565.1:p.Ser512Arg | |
| XM_017006077.2:c.1536T>G | XP_016861566.1:p.Ser512Arg | |
| XM_017006078.2:c.1536T>G | XP_016861567.1:p.Ser512Arg | |
| XM_017006079.2:c.1536T>G | XP_016861568.1:p.Ser512Arg | |
| XM_017006080.2:c.1536T>G | XP_016861569.1:p.Ser512Arg | |
| XM_017006081.2:c.1617T>G | XP_016861570.1:p.Ser539Arg | |
| XM_017006082.2:c.1392T>G | XP_016861571.1:p.Ser464Arg | |
| XM_017006083.2:c.1008T>G | XP_016861572.1:p.Ser336Arg | |
| NM_207015.3:c.1587T>G MANE Select | NP_996898.2:p.Ser529Arg |