Linked Data
ClinVar Variation Id:
262847
dbSNP Id:
rs6415847
ExAC:
9:101533220 C / T
gnomAD v2:
9-101533220-C-T
gnomAD v3:
9-98770938-C-T
gnomAD v4:
9-98770938-C-T
COSMIC:
COSM4163154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98770938C>T , CM000671.2:g.98770938C>T | GRCh38 |
| NC_000009.11:g.101533220C>T , CM000671.1:g.101533220C>T | GRCh37 |
| NC_000009.10:g.100573041C>T | NCBI36 |
| NG_042237.1:g.30605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.1930G>A MANE Select | ENSP00000297837.6:p.Val644Ile | |
| ENST00000353234.4:c.1930G>A | ENSP00000297837.6:p.Val644Ile | |
| ENST00000375019.6:c.1027G>A | ENSP00000364159.2:p.Val343Ile | |
| ENST00000444472.5:c.335G>A | ||
| ENST00000634393.1:n.1030G>A | ||
| NM_173551.3:c.1930G>A | NP_775822.3:p.Val644Ile | |
| NM_173551.4:c.1930G>A | NP_775822.3:p.Val644Ile | |
| XM_005251793.3:c.1930G>A | XP_005251850.1:p.Val644Ile | |
| XM_005251794.3:c.1930G>A | XP_005251851.1:p.Val644Ile | |
| XM_006716998.2:c.1930G>A | XP_006717061.1:p.Val644Ile | |
| XM_006716999.2:c.1756G>A | XP_006717062.1:p.Val586Ile | |
| XM_011518356.1:c.1930G>A | XP_011516658.1:p.Val644Ile | |
| XM_011518357.1:c.940G>A | XP_011516659.1:p.Val314Ile | |
| XR_242576.3:n.1968G>A | ||
| XR_428520.2:n.1969G>A | ||
| XR_929736.1:n.1969G>A | ||
| XR_929737.1:n.1035G>A | ||
| XM_005251793.4:c.1930G>A | XP_005251850.1:p.Val644Ile | |
| XM_005251794.4:c.1930G>A | XP_005251851.1:p.Val644Ile | |
| XM_006716998.3:c.1930G>A | XP_006717061.1:p.Val644Ile | |
| XM_006716999.3:c.1756G>A | XP_006717062.1:p.Val586Ile | |
| XM_017014445.1:c.1930G>A | XP_016869934.1:p.Val644Ile | |
| XM_017014447.1:c.679G>A | XP_016869936.1:p.Val227Ile | |
| XM_024447445.1:c.1648G>A | XP_024303213.1:p.Val550Ile | |
| XM_024447447.1:c.1345G>A | XP_024303215.1:p.Val449Ile | |
| XR_001746230.1:n.1035G>A | ||
| XR_428520.3:n.1968G>A | ||
| XR_929736.2:n.1968G>A | ||
| NM_173551.5:c.1930G>A MANE Select | NP_775822.3:p.Val644Ile |