Linked Data
ClinVar Variation Id:
13405
dbSNP Id:
rs74315408
ExAC:
20:4680404 G / A
gnomAD v2:
20-4680404-G-A
gnomAD v3:
20-4699758-G-A
gnomAD v4:
20-4699758-G-A
COSMIC:
COSM3758611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4699758G>A , CM000682.2:g.4699758G>A | GRCh38 |
| NC_000020.10:g.4680404G>A , CM000682.1:g.4680404G>A | GRCh37 |
| NC_000020.9:g.4628404G>A | NCBI36 |
| NG_009087.1:g.18608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379440.9:c.538G>A MANE Select | ENSP00000368752.4:p.Val180Ile | |
| ENST00000424424.2:c.538G>A | ENSP00000411599.2:p.Val180Ile | |
| ENST00000457586.2:c.538G>A | ENSP00000415284.2:p.Val180Ile | |
| ENST00000379440.8:c.538G>A | ENSP00000368752.4:p.Val180Ile | |
| ENST00000424424.1:c.538G>A | ENSP00000411599.1:p.Val180Ile | |
| ENST00000430350.2:c.538G>A | ENSP00000399376.2:p.Val180Ile | |
| ENST00000457586.1:c.538G>A | ENSP00000415284.1:p.Val180Ile | |
| NM_000311.3:c.538G>A | NP_000302.1:p.Val180Ile | |
| NM_001080121.1:c.538G>A | NP_001073590.1:p.Val180Ile | |
| NM_001080122.1:c.538G>A | NP_001073591.1:p.Val180Ile | |
| NM_001080123.1:c.538G>A | NP_001073592.1:p.Val180Ile | |
| NM_001271561.1:c.*227G>A | NP_001258490.1:n.*227G>A | |
| NM_183079.2:c.538G>A | NP_898902.1:p.Val180Ile | |
| NM_000311.4:c.538G>A | NP_000302.1:p.Val180Ile | |
| NM_001080121.2:c.538G>A | NP_001073590.1:p.Val180Ile | |
| NM_001080122.2:c.538G>A | NP_001073591.1:p.Val180Ile | |
| NM_001080123.2:c.538G>A | NP_001073592.1:p.Val180Ile | |
| NM_001271561.2:c.*227G>A | NP_001258490.1:n.*227G>A | |
| NM_183079.3:c.538G>A | NP_898902.1:p.Val180Ile | |
| NM_000311.5:c.538G>A MANE Select | NP_000302.1:p.Val180Ile | |
| NM_001080121.3:c.538G>A | NP_001073590.1:p.Val180Ile | |
| NM_001080122.3:c.538G>A | NP_001073591.1:p.Val180Ile | |
| NM_001080123.3:c.538G>A | NP_001073592.1:p.Val180Ile | |
| NM_001271561.3:c.*227G>A | NP_001258490.1:n.*227G>A | |
| NM_183079.4:c.538G>A | NP_898902.1:p.Val180Ile |