Linked Data
ClinVar Variation Id:
525340
dbSNP Id:
rs138915052
ExAC:
7:780456 G / A
gnomAD v2:
7-780456-G-A
gnomAD v3:
7-740819-G-A
gnomAD v4:
7-740819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.740819G>A , CM000669.2:g.740819G>A | GRCh38 |
| NC_000007.13:g.780456G>A , CM000669.1:g.780456G>A | GRCh37 |
| NC_000007.12:g.746982G>A | NCBI36 |
| NG_033137.1:g.19119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.781G>A MANE Select | ENSP00000297440.6:p.Val261Ile | |
| ENST00000297440.10:c.781G>A | ENSP00000297440.6:p.Val261Ile | |
| ENST00000437419.5:c.98G>A | ||
| ENST00000438961.1:n.250G>A | ||
| ENST00000440747.5:c.185G>A | ||
| NM_017802.3:c.781G>A | NP_060272.3:p.Val261Ile | |
| NR_075098.1:n.739G>A | ||
| XM_024446813.1:c.781G>A | XP_024302581.1:p.Val261Ile | |
| XM_024446814.1:c.175G>A | XP_024302582.1:p.Val59Ile | |
| NM_017802.4:c.781G>A MANE Select | NP_060272.3:p.Val261Ile | |
| NR_075098.2:n.741G>A |