Linked Data
ClinVar Variation Id:
2130448
ClinVar RCV Id:
RCV003052083
dbSNP Id:
rs1312175952
gnomAD v2:
7-130038855-G-A
gnomAD v4:
7-130399014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130399014G>A , CM000669.2:g.130399014G>A | GRCh38 |
| NC_000007.13:g.130038855G>A , CM000669.1:g.130038855G>A | GRCh37 |
| NC_000007.12:g.129826091G>A | NCBI36 |
| NG_032164.1:g.47197C>T | |
| NG_032164.2:g.47197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.999C>T MANE Select | ENSP00000223208.4:p.Ser333= | |
| ENST00000343969.10:c.792C>T | ENSP00000342738.6:p.Ser264= | |
| ENST00000480206.2:c.*1511C>T | ENSP00000502099.1:n.*1511C>T | |
| ENST00000484549.6:c.*1171C>T | ENSP00000419078.2:n.*1171C>T | |
| ENST00000492389.6:c.803C>T | ENSP00000419192.2:n.803C>T | |
| ENST00000541543.6:c.990C>T | ENSP00000445888.2:p.Ser330= | |
| ENST00000674539.1:c.*7C>T | ENSP00000502834.1:n.*7C>T | |
| ENST00000674630.1:c.*545C>T | ENSP00000502521.1:n.*545C>T | |
| ENST00000675138.1:c.1044C>T | ENSP00000501597.1:p.Ser348= | |
| ENST00000675168.1:c.951C>T | ENSP00000501563.1:p.Ser317= | |
| ENST00000675328.1:n.809C>T | ||
| ENST00000675542.1:n.964C>T | ||
| ENST00000675563.1:c.390C>T | ENSP00000502483.1:p.Ser130= | |
| ENST00000675596.1:c.783C>T | ENSP00000501735.1:p.Ser261= | |
| ENST00000675649.1:c.816C>T | ENSP00000502385.1:p.Ser272= | |
| ENST00000675721.1:c.*942C>T | ENSP00000502026.1:n.*942C>T | |
| ENST00000675803.1:c.960C>T | ENSP00000502477.1:p.Ser320= | |
| ENST00000675813.1:c.*903C>T | ENSP00000502785.1:n.*903C>T | |
| ENST00000675935.1:c.990C>T | ENSP00000501731.1:p.Ser330= | |
| ENST00000675962.1:c.735C>T | ENSP00000502478.1:p.Ser245= | |
| ENST00000676115.1:c.*920C>T | ENSP00000502631.1:n.*920C>T | |
| ENST00000676243.1:c.1008C>T | ENSP00000501717.1:p.Ser336= | |
| ENST00000676312.1:c.960C>T | ENSP00000502312.1:p.Ser320= | |
| ENST00000223208.9:c.999C>T | ENSP00000223208.4:p.Ser333= | |
| ENST00000343969.9:c.783C>T | ENSP00000342738.5:p.Ser261= | |
| ENST00000484549.5:c.*545C>T | ENSP00000419078.1:n.*545C>T | |
| ENST00000485736.5:n.682C>T | ||
| ENST00000541543.5:c.735C>T | ENSP00000445888.1:p.Ser245= | |
| ENST00000603513.1:n.2196C>T | ||
| NM_001257158.1:c.783C>T | NP_001244087.1:p.Ser261= | |
| NM_001257159.1:c.735C>T | NP_001244088.1:p.Ser245= | |
| NM_018718.2:c.999C>T | NP_061188.1:p.Ser333= | |
| NR_046443.1:n.1167C>T | ||
| XM_011516708.1:c.1044C>T | XP_011515010.1:p.Ser348= | |
| XM_011516709.1:c.894C>T | XP_011515011.1:p.Ser298= | |
| XM_011516710.1:c.894C>T | XP_011515012.1:p.Ser298= | |
| XM_011516711.1:c.894C>T | XP_011515013.1:p.Ser298= | |
| XM_011516712.1:c.828C>T | XP_011515014.1:p.Ser276= | |
| XM_011516709.3:c.894C>T | XP_011515011.1:p.Ser298= | |
| XM_011516710.3:c.894C>T | XP_011515012.1:p.Ser298= | |
| XM_024447004.1:c.960C>T | XP_024302772.1:p.Ser320= | |
| NM_018718.3:c.999C>T MANE Select | NP_061188.1:p.Ser333= | |
| NM_001257158.2:c.783C>T | NP_001244087.1:p.Ser261= | |
| NR_046443.2:n.973C>T | ||
| NM_001257159.2:c.735C>T | NP_001244088.1:p.Ser245= |