Linked Data
ClinVar Variation Id:
486279
dbSNP Id:
rs1555605074
gnomAD v4:
17-58732512-C-T
PubMed:
PMID:27616075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58732512C>T , CM000679.2:g.58732512C>T | GRCh38 |
| NC_000017.10:g.56809873C>T , CM000679.1:g.56809873C>T | GRCh37 |
| NC_000017.9:g.54164872C>T | NCBI36 |
| NG_023199.1:g.44911C>T , LRG_314:g.44911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.643C>T | ENSP00000464056.2:p.Gln215Ter | |
| ENST00000697680.1:c.*1958C>T | ENSP00000513392.1:n.*1958C>T | |
| ENST00000697681.1:c.*2155C>T | ENSP00000513393.1:n.*2155C>T | |
| ENST00000697683.1:c.*1930C>T | ENSP00000513395.1:n.*1930C>T | |
| ENST00000697685.1:c.*1691C>T | ENSP00000513396.1:n.*1691C>T | |
| ENST00000697686.1:c.765C>T | ENSP00000513397.1:p.Ala255= | |
| ENST00000697689.1:c.*1441-1606C>T | ENSP00000513398.1:n.*1441-1606C>T | |
| ENST00000697690.1:c.905-1606C>T | ENSP00000513399.1:n.905-1606C>T | |
| ENST00000697691.1:c.*966C>T | ENSP00000513400.1:n.*966C>T | |
| ENST00000697692.1:c.*1006C>T | ENSP00000513401.1:n.*1006C>T | |
| ENST00000697694.1:c.643C>T | ENSP00000513402.1:p.Gln215Ter | |
| ENST00000697695.1:n.1601C>T | ||
| ENST00000337432.9:c.994C>T MANE Select | ENSP00000336701.4:p.Gln332Ter | |
| ENST00000337432.8:c.994C>T | ENSP00000336701.4:p.Gln332Ter | |
| ENST00000413590.5:c.635C>T | ||
| ENST00000461706.1:n.181C>T | ||
| ENST00000475762.5:c.*1630C>T | ENSP00000432421.1:n.*1630C>T | |
| ENST00000482007.5:c.*422C>T | ENSP00000433332.1:n.*422C>T | |
| ENST00000487525.5:c.*570C>T | ENSP00000431637.1:n.*570C>T | |
| ENST00000578151.1:n.240-1606C>T | ||
| ENST00000581221.5:n.509C>T | ||
| ENST00000583539.5:c.994C>T | ENSP00000463121.1:p.Gln332Ter | |
| ENST00000584617.5:c.716C>T | ||
| ENST00000584804.1:c.228C>T | ENSP00000463658.1:p.Ala76= | |
| NM_058216.2:c.994C>T | NP_478123.1:p.Gln332Ter | |
| NR_103872.1:n.898C>T | ||
| XM_006722001.2:c.997C>T | XP_006722064.1:p.Gln333Ter | |
| XM_006722002.2:c.933C>T | XP_006722065.1:p.Ala311= | |
| XM_006722004.2:c.646C>T | XP_006722067.1:p.Gln216Ter | |
| XM_006722005.2:c.646C>T | XP_006722068.1:p.Gln216Ter | |
| XM_011525092.1:c.646C>T | XP_011523394.1:p.Gln216Ter | |
| XM_011525093.1:c.646C>T | XP_011523395.1:p.Gln216Ter | |
| XM_011525094.1:c.646C>T | XP_011523396.1:p.Gln216Ter | |
| XR_934513.1:n.1212C>T | ||
| XR_934514.1:n.1215C>T | ||
| XR_934886.1:n.149+5559G>A | ||
| XM_006722001.4:c.997C>T | XP_006722064.1:p.Gln333Ter | |
| XM_006722002.4:c.933C>T | XP_006722065.1:p.Ala311= | |
| XM_006722004.3:c.646C>T | XP_006722067.1:p.Gln216Ter | |
| XM_006722005.3:c.646C>T | XP_006722068.1:p.Gln216Ter | |
| XM_011525092.2:c.646C>T | XP_011523394.1:p.Gln216Ter | |
| XM_011525093.2:c.646C>T | XP_011523395.1:p.Gln216Ter | |
| XM_011525094.2:c.646C>T | XP_011523396.1:p.Gln216Ter | |
| XM_017024914.1:c.643C>T | XP_016880403.1:p.Gln215Ter | |
| XM_017024915.1:c.643C>T | XP_016880404.1:p.Gln215Ter | |
| XM_017024916.1:c.643C>T | XP_016880405.1:p.Gln215Ter | |
| XM_017024917.1:c.643C>T | XP_016880406.1:p.Gln215Ter | |
| XM_017024918.2:c.643C>T | XP_016880407.1:p.Gln215Ter | |
| XM_017024919.1:c.582C>T | XP_016880408.1:p.Ala194= | |
| XR_934513.3:n.1643C>T | ||
| XR_934514.3:n.1646C>T | ||
| XR_934886.2:n.149+5559G>A | ||
| NM_058216.3:c.994C>T MANE Select | NP_478123.1:p.Gln332Ter | |
| NR_103872.2:n.869C>T |