Linked Data
ClinVar Variation Id:
471431
dbSNP Id:
rs1160208500
gnomAD v2:
17-56811503-G-A
gnomAD v3:
17-58734142-G-A
gnomAD v4:
17-58734142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734142G>A , CM000679.2:g.58734142G>A | GRCh38 |
| NC_000017.10:g.56811503G>A , CM000679.1:g.56811503G>A | GRCh37 |
| NC_000017.9:g.54166502G>A | NCBI36 |
| NG_023199.1:g.46541G>A , LRG_314:g.46541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1583G>A | ENSP00000464056.2:n.*1583G>A | |
| ENST00000697680.1:c.*2015G>A | ENSP00000513392.1:n.*2015G>A | |
| ENST00000697681.1:c.*2212G>A | ENSP00000513393.1:n.*2212G>A | |
| ENST00000697683.1:c.*1987G>A | ENSP00000513395.1:n.*1987G>A | |
| ENST00000697685.1:c.*1748G>A | ENSP00000513396.1:n.*1748G>A | |
| ENST00000697686.1:c.822G>A | ENSP00000513397.1:p.Leu274= | |
| ENST00000697689.1:c.*1465G>A | ENSP00000513398.1:n.*1465G>A | |
| ENST00000697690.1:c.*11G>A | ENSP00000513399.1:n.*11G>A | |
| ENST00000697691.1:c.*1023G>A | ENSP00000513400.1:n.*1023G>A | |
| ENST00000697692.1:c.*1063G>A | ENSP00000513401.1:n.*1063G>A | |
| ENST00000697694.1:c.700G>A | ENSP00000513402.1:p.Val234Ile | |
| ENST00000697695.1:n.1658G>A | ||
| ENST00000337432.9:c.1051G>A MANE Select | ENSP00000336701.4:p.Val351Ile | |
| ENST00000337432.8:c.1051G>A | ENSP00000336701.4:p.Val351Ile | |
| ENST00000413590.5:c.692G>A | ||
| ENST00000461706.1:n.238G>A | ||
| ENST00000475762.5:c.*1687G>A | ENSP00000432421.1:n.*1687G>A | |
| ENST00000482007.5:c.*479G>A | ENSP00000433332.1:n.*479G>A | |
| ENST00000487525.5:c.*627G>A | ENSP00000431637.1:n.*627G>A | |
| ENST00000578151.1:n.264G>A | ||
| ENST00000581221.5:n.566G>A | ||
| ENST00000584804.1:c.285G>A | ENSP00000463658.1:p.Leu95= | |
| NM_058216.2:c.1051G>A | NP_478123.1:p.Val351Ile | |
| NR_103872.1:n.955G>A | ||
| XM_006722001.2:c.1054G>A | XP_006722064.1:p.Val352Ile | |
| XM_006722002.2:c.990G>A | XP_006722065.1:p.Leu330= | |
| XM_006722004.2:c.703G>A | XP_006722067.1:p.Val235Ile | |
| XM_006722005.2:c.703G>A | XP_006722068.1:p.Val235Ile | |
| XM_011525092.1:c.703G>A | XP_011523394.1:p.Val235Ile | |
| XM_011525093.1:c.703G>A | XP_011523395.1:p.Val235Ile | |
| XM_011525094.1:c.703G>A | XP_011523396.1:p.Val235Ile | |
| XR_934513.1:n.1269G>A | ||
| XR_934514.1:n.1272G>A | ||
| XR_934886.1:n.149+3929C>T | ||
| XM_006722001.4:c.1054G>A | XP_006722064.1:p.Val352Ile | |
| XM_006722002.4:c.990G>A | XP_006722065.1:p.Leu330= | |
| XM_006722004.3:c.703G>A | XP_006722067.1:p.Val235Ile | |
| XM_006722005.3:c.703G>A | XP_006722068.1:p.Val235Ile | |
| XM_011525092.2:c.703G>A | XP_011523394.1:p.Val235Ile | |
| XM_011525093.2:c.703G>A | XP_011523395.1:p.Val235Ile | |
| XM_011525094.2:c.703G>A | XP_011523396.1:p.Val235Ile | |
| XM_017024914.1:c.700G>A | XP_016880403.1:p.Val234Ile | |
| XM_017024915.1:c.700G>A | XP_016880404.1:p.Val234Ile | |
| XM_017024916.1:c.700G>A | XP_016880405.1:p.Val234Ile | |
| XM_017024917.1:c.700G>A | XP_016880406.1:p.Val234Ile | |
| XM_017024918.2:c.700G>A | XP_016880407.1:p.Val234Ile | |
| XM_017024919.1:c.639G>A | XP_016880408.1:p.Leu213= | |
| XR_934513.3:n.1700G>A | ||
| XR_934514.3:n.1703G>A | ||
| XR_934886.2:n.149+3929C>T | ||
| NM_058216.3:c.1051G>A MANE Select | NP_478123.1:p.Val351Ile | |
| NR_103872.2:n.926G>A |