Linked Data
ClinVar Variation Id:
538774
dbSNP Id:
rs1555605562
gnomAD v3:
17-58734155-G-A
gnomAD v4:
17-58734155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734155G>A , CM000679.2:g.58734155G>A | GRCh38 |
| NC_000017.10:g.56811516G>A , CM000679.1:g.56811516G>A | GRCh37 |
| NC_000017.9:g.54166515G>A | NCBI36 |
| NG_023199.1:g.46554G>A , LRG_314:g.46554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1596G>A | ENSP00000464056.2:n.*1596G>A | |
| ENST00000697680.1:c.*2028G>A | ENSP00000513392.1:n.*2028G>A | |
| ENST00000697681.1:c.*2225G>A | ENSP00000513393.1:n.*2225G>A | |
| ENST00000697683.1:c.*2000G>A | ENSP00000513395.1:n.*2000G>A | |
| ENST00000697685.1:c.*1761G>A | ENSP00000513396.1:n.*1761G>A | |
| ENST00000697686.1:c.835G>A | ENSP00000513397.1:p.Val279Ile | |
| ENST00000697689.1:c.*1478G>A | ENSP00000513398.1:n.*1478G>A | |
| ENST00000697690.1:c.*24G>A | ENSP00000513399.1:n.*24G>A | |
| ENST00000697691.1:c.*1036G>A | ENSP00000513400.1:n.*1036G>A | |
| ENST00000697692.1:c.*1076G>A | ENSP00000513401.1:n.*1076G>A | |
| ENST00000697694.1:c.713G>A | ENSP00000513402.1:p.Cys238Tyr | |
| ENST00000697695.1:n.1671G>A | ||
| ENST00000337432.9:c.1064G>A MANE Select | ENSP00000336701.4:p.Cys355Tyr | |
| ENST00000337432.8:c.1064G>A | ENSP00000336701.4:p.Cys355Tyr | |
| ENST00000413590.5:c.705G>A | ||
| ENST00000461706.1:n.251G>A | ||
| ENST00000475762.5:c.*1700G>A | ENSP00000432421.1:n.*1700G>A | |
| ENST00000482007.5:c.*492G>A | ENSP00000433332.1:n.*492G>A | |
| ENST00000487525.5:c.*640G>A | ENSP00000431637.1:n.*640G>A | |
| ENST00000578151.1:n.277G>A | ||
| ENST00000581221.5:n.579G>A | ||
| ENST00000584804.1:c.298G>A | ENSP00000463658.1:p.Val100Ile | |
| NM_058216.2:c.1064G>A | NP_478123.1:p.Cys355Tyr | |
| NR_103872.1:n.968G>A | ||
| XM_006722001.2:c.1067G>A | XP_006722064.1:p.Cys356Tyr | |
| XM_006722002.2:c.1003G>A | XP_006722065.1:p.Val335Ile | |
| XM_006722004.2:c.716G>A | XP_006722067.1:p.Cys239Tyr | |
| XM_006722005.2:c.716G>A | XP_006722068.1:p.Cys239Tyr | |
| XM_011525092.1:c.716G>A | XP_011523394.1:p.Cys239Tyr | |
| XM_011525093.1:c.716G>A | XP_011523395.1:p.Cys239Tyr | |
| XM_011525094.1:c.716G>A | XP_011523396.1:p.Cys239Tyr | |
| XR_934513.1:n.1282G>A | ||
| XR_934514.1:n.1285G>A | ||
| XR_934886.1:n.149+3916C>T | ||
| XM_006722001.4:c.1067G>A | XP_006722064.1:p.Cys356Tyr | |
| XM_006722002.4:c.1003G>A | XP_006722065.1:p.Val335Ile | |
| XM_006722004.3:c.716G>A | XP_006722067.1:p.Cys239Tyr | |
| XM_006722005.3:c.716G>A | XP_006722068.1:p.Cys239Tyr | |
| XM_011525092.2:c.716G>A | XP_011523394.1:p.Cys239Tyr | |
| XM_011525093.2:c.716G>A | XP_011523395.1:p.Cys239Tyr | |
| XM_011525094.2:c.716G>A | XP_011523396.1:p.Cys239Tyr | |
| XM_017024914.1:c.713G>A | XP_016880403.1:p.Cys238Tyr | |
| XM_017024915.1:c.713G>A | XP_016880404.1:p.Cys238Tyr | |
| XM_017024916.1:c.713G>A | XP_016880405.1:p.Cys238Tyr | |
| XM_017024917.1:c.713G>A | XP_016880406.1:p.Cys238Tyr | |
| XM_017024918.2:c.713G>A | XP_016880407.1:p.Cys238Tyr | |
| XM_017024919.1:c.652G>A | XP_016880408.1:p.Val218Ile | |
| XR_934513.3:n.1713G>A | ||
| XR_934514.3:n.1716G>A | ||
| XR_934886.2:n.149+3916C>T | ||
| NM_058216.3:c.1064G>A MANE Select | NP_478123.1:p.Cys355Tyr | |
| NR_103872.2:n.939G>A |