Linked Data
ClinVar Variation Id:
187073
dbSNP Id:
rs545024029
ExAC:
17:56811580 A / G
gnomAD v2:
17-56811580-A-G
gnomAD v3:
17-58734219-A-G
gnomAD v4:
17-58734219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734219A>G , CM000679.2:g.58734219A>G | GRCh38 |
| NC_000017.10:g.56811580A>G , CM000679.1:g.56811580A>G | GRCh37 |
| NC_000017.9:g.54166579A>G | NCBI36 |
| NG_023199.1:g.46618A>G , LRG_314:g.46618A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1660A>G | ENSP00000464056.2:n.*1660A>G | |
| ENST00000697680.1:c.*2092A>G | ENSP00000513392.1:n.*2092A>G | |
| ENST00000697681.1:c.*2289A>G | ENSP00000513393.1:n.*2289A>G | |
| ENST00000697683.1:c.*2064A>G | ENSP00000513395.1:n.*2064A>G | |
| ENST00000697685.1:c.*1825A>G | ENSP00000513396.1:n.*1825A>G | |
| ENST00000697686.1:c.*38A>G | ENSP00000513397.1:n.*38A>G | |
| ENST00000697689.1:c.*1542A>G | ENSP00000513398.1:n.*1542A>G | |
| ENST00000697690.1:c.*88A>G | ENSP00000513399.1:n.*88A>G | |
| ENST00000697691.1:c.*1100A>G | ENSP00000513400.1:n.*1100A>G | |
| ENST00000697692.1:c.*1140A>G | ENSP00000513401.1:n.*1140A>G | |
| ENST00000697694.1:c.777A>G | ENSP00000513402.1:p.Leu259= | |
| ENST00000697695.1:n.1735A>G | ||
| ENST00000337432.9:c.1128A>G MANE Select | ENSP00000336701.4:p.Leu376= | |
| ENST00000337432.8:c.1128A>G | ENSP00000336701.4:p.Leu376= | |
| ENST00000413590.5:c.769A>G | ||
| ENST00000461706.1:n.315A>G | ||
| ENST00000475762.5:c.*1764A>G | ENSP00000432421.1:n.*1764A>G | |
| ENST00000482007.5:c.*556A>G | ENSP00000433332.1:n.*556A>G | |
| ENST00000487525.5:c.*704A>G | ENSP00000431637.1:n.*704A>G | |
| ENST00000578151.1:n.341A>G | ||
| ENST00000581221.5:n.643A>G | ||
| ENST00000584804.1:c.362A>G | ENSP00000463658.1:n.362A>G | |
| NM_058216.2:c.1128A>G | NP_478123.1:p.Leu376= | |
| NR_103872.1:n.1032A>G | ||
| XM_006722001.2:c.1131A>G | XP_006722064.1:p.Leu377= | |
| XM_006722002.2:c.*38A>G | XP_006722065.1:n.*38A>G | |
| XM_006722004.2:c.780A>G | XP_006722067.1:p.Leu260= | |
| XM_006722005.2:c.780A>G | XP_006722068.1:p.Leu260= | |
| XM_011525092.1:c.780A>G | XP_011523394.1:p.Leu260= | |
| XM_011525093.1:c.780A>G | XP_011523395.1:p.Leu260= | |
| XM_011525094.1:c.780A>G | XP_011523396.1:p.Leu260= | |
| XR_934513.1:n.1346A>G | ||
| XR_934886.1:n.149+3852T>C | ||
| XM_006722001.4:c.1131A>G | XP_006722064.1:p.Leu377= | |
| XM_006722002.4:c.*38A>G | XP_006722065.1:n.*38A>G | |
| XM_006722004.3:c.780A>G | XP_006722067.1:p.Leu260= | |
| XM_006722005.3:c.780A>G | XP_006722068.1:p.Leu260= | |
| XM_011525092.2:c.780A>G | XP_011523394.1:p.Leu260= | |
| XM_011525093.2:c.780A>G | XP_011523395.1:p.Leu260= | |
| XM_011525094.2:c.780A>G | XP_011523396.1:p.Leu260= | |
| XM_017024914.1:c.777A>G | XP_016880403.1:p.Leu259= | |
| XM_017024915.1:c.777A>G | XP_016880404.1:p.Leu259= | |
| XM_017024916.1:c.777A>G | XP_016880405.1:p.Leu259= | |
| XM_017024917.1:c.777A>G | XP_016880406.1:p.Leu259= | |
| XM_017024918.2:c.777A>G | XP_016880407.1:p.Leu259= | |
| XM_017024919.1:c.*38A>G | XP_016880408.1:n.*38A>G | |
| XR_934513.3:n.1777A>G | ||
| XR_934886.2:n.149+3852T>C | ||
| NM_058216.3:c.1128A>G MANE Select | NP_478123.1:p.Leu376= | |
| NR_103872.2:n.1003A>G |