Linked Data
ClinVar Variation Id:
292914
ClinVar RCV Id:
RCV000347906
dbSNP Id:
rs140993290
ExAC:
1:15772155 G / A
gnomAD v2:
1-15772155-G-A
gnomAD v3:
1-15445660-G-A
gnomAD v4:
1-15445660-G-A
COSMIC:
COSM239482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445660G>A , CM000663.2:g.15445660G>A | GRCh38 |
| NC_000001.10:g.15772155G>A , CM000663.1:g.15772155G>A | GRCh37 |
| NC_000001.9:g.15644742G>A | NCBI36 |
| NG_009253.1:g.12218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.703G>A MANE Select | ENSP00000365116.4:p.Val235Ile | |
| ENST00000375943.6:c.*157G>A | ENSP00000365110.2:n.*157G>A | |
| ENST00000375949.4:c.703G>A | ENSP00000365116.4:p.Val235Ile | |
| ENST00000483406.1:n.467G>A | ||
| NM_007272.2:c.703G>A | NP_009203.2:p.Val235Ile | |
| XM_011540550.1:c.557G>A | XP_011538852.1:p.Arg186His | |
| NM_007272.3:c.703G>A MANE Select | NP_009203.2:p.Val235Ile |