Linked Data
ClinVar Variation Id:
240837
dbSNP Id:
rs142215198
ExAC:
15:51260460 G / A
gnomAD v2:
15-51260460-G-A
gnomAD v3:
15-50968263-G-A
gnomAD v4:
15-50968263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50968263G>A , CM000677.2:g.50968263G>A | GRCh38 |
| NC_000015.9:g.51260460G>A , CM000677.1:g.51260460G>A | GRCh37 |
| NC_000015.8:g.49047752G>A | NCBI36 |
| NG_031875.1:g.64592G>A | |
| NG_031875.2:g.64592G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261842.10:c.1852G>A MANE Select | ENSP00000261842.5:p.Val618Ile | |
| ENST00000261842.9:c.1852G>A | ENSP00000261842.5:p.Val618Ile | |
| ENST00000558439.5:c.*976G>A | ENSP00000452712.1:n.*976G>A | |
| ENST00000560508.1:c.1627G>A | ENSP00000452976.1:p.Val543Ile | |
| ENST00000561393.5:c.*896G>A | ENSP00000452711.1:n.*896G>A | |
| NM_001252127.1:c.1627G>A | NP_001239056.1:p.Val543Ile | |
| NM_007347.4:c.1852G>A | NP_031373.2:p.Val618Ile | |
| XM_005254264.2:c.1627G>A | XP_005254321.1:p.Val543Ile | |
| XM_006720447.2:c.1627G>A | XP_006720510.1:p.Val543Ile | |
| XM_011521408.1:c.1672G>A | XP_011519710.1:p.Val558Ile | |
| XM_011521409.1:c.502G>A | XP_011519711.1:p.Val168Ile | |
| XM_005254264.4:c.1627G>A | XP_005254321.1:p.Val543Ile | |
| XM_006720447.4:c.1627G>A | XP_006720510.1:p.Val543Ile | |
| XM_017022042.2:c.970G>A | XP_016877531.1:p.Val324Ile | |
| XR_001751183.1:n.1959G>A | ||
| XR_001751184.1:n.1959G>A | ||
| NM_007347.5:c.1852G>A MANE Select | NP_031373.2:p.Val618Ile | |
| NM_001252127.2:c.1627G>A | NP_001239056.1:p.Val543Ile |