Linked Data
ClinVar Variation Id:
362586
dbSNP Id:
rs753963317
ExAC:
8:22052417 G / A
gnomAD v2:
8-22052417-G-A
gnomAD v3:
8-22194904-G-A
gnomAD v4:
8-22194904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22194904G>A , CM000670.2:g.22194904G>A | GRCh38 |
| NC_000008.10:g.22052417G>A , CM000670.1:g.22052417G>A | GRCh37 |
| NC_000008.9:g.22108362G>A | NCBI36 |
| NG_029659.1:g.34765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306349.13:c.1624G>A MANE Plus Clinical | ENSP00000306121.8:p.Val542Ile | |
| ENST00000306385.10:c.1624G>A MANE Select | ENSP00000305714.5:p.Val542Ile | |
| ENST00000520626.6:c.*1471G>A | ENSP00000430015.2:n.*1471G>A | |
| ENST00000306349.12:c.1624G>A | ENSP00000306121.8:p.Val542Ile | |
| ENST00000306385.9:c.1624G>A | ENSP00000305714.5:p.Val542Ile | |
| ENST00000354870.5:c.*881G>A | ENSP00000346941.5:n.*881G>A | |
| ENST00000471755.5:c.1624G>A | ENSP00000428665.1:p.Val542Ile | |
| ENST00000483364.5:c.*881G>A | ENSP00000428249.1:n.*881G>A | |
| ENST00000517324.5:n.557G>A | ||
| ENST00000518913.5:c.*1091G>A | ENSP00000427950.1:n.*1091G>A | |
| ENST00000520626.5:c.*1471G>A | ENSP00000430015.1:n.*1471G>A | |
| ENST00000520970.5:c.1624G>A | ENSP00000428332.1:p.Val542Ile | |
| ENST00000520982.5:c.*1091G>A | ENSP00000428798.1:n.*1091G>A | |
| ENST00000521385.5:c.1624G>A | ENSP00000430406.1:p.Val542Ile | |
| NM_001199.3:c.1624G>A | NP_001190.1:p.Val542Ile | |
| NM_006129.4:c.1624G>A | NP_006120.1:p.Val542Ile | |
| NR_033403.1:n.1927G>A | ||
| NR_033404.1:n.1927G>A | ||
| XM_006716386.2:c.1624G>A | XP_006716449.2:p.Val542Ile | |
| XM_011544617.1:c.1624G>A | XP_011542919.1:p.Val542Ile | |
| XR_428315.2:n.1890G>A | ||
| XR_949458.1:n.1890G>A | ||
| XM_006716386.3:c.1624G>A | XP_006716449.2:p.Val542Ile | |
| XM_011544617.2:c.1624G>A | XP_011542919.1:p.Val542Ile | |
| XM_017013738.2:c.1624G>A | XP_016869227.1:p.Val542Ile | |
| XR_001745579.2:n.1832G>A | ||
| XR_949458.2:n.1832G>A | ||
| NM_006129.5:c.1624G>A MANE Select | NP_006120.1:p.Val542Ile | |
| NM_001199.4:c.1624G>A MANE Plus Clinical | NP_001190.1:p.Val542Ile | |
| NR_033403.2:n.1695G>A | ||
| NR_033404.2:n.1695G>A |