Linked Data
dbSNP Id:
rs963845288
gnomAD v2:
7-24325017-G-A
gnomAD v4:
7-24285398-G-A
COSMIC:
COSM1450098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24285398G>A , CM000669.2:g.24285398G>A | GRCh38 |
| NC_000007.13:g.24325017G>A , CM000669.1:g.24325017G>A | GRCh37 |
| NC_000007.12:g.24291542G>A | NCBI36 |
| NG_016148.1:g.6211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242152.7:c.158G>A MANE Select | ENSP00000242152.2:p.Arg53Gln | |
| ENST00000242152.6:c.158G>A | ENSP00000242152.2:p.Arg53Gln | |
| ENST00000405982.1:c.158G>A | ENSP00000385282.1:p.Arg53Gln | |
| ENST00000407573.5:c.158G>A | ENSP00000384364.1:p.Arg53Gln | |
| NM_000905.3:c.158G>A | NP_000896.1:p.Arg53Gln | |
| XM_017012910.1:c.42-29699C>T | XP_016868399.1:n.42-29699C>T | |
| XM_017012911.1:c.42-29699C>T | XP_016868400.1:n.42-29699C>T | |
| XR_001745121.1:n.473+33959C>T | ||
| XR_001745122.1:n.345-88369C>T | ||
| XR_001745123.1:n.473+33959C>T | ||
| XR_001745124.1:n.473+33959C>T | ||
| XR_001745125.1:n.473+33959C>T | ||
| XR_001745126.1:n.473+33959C>T | ||
| XR_001745127.1:n.345-29699C>T | ||
| XR_001745129.1:n.473+33959C>T | ||
| XR_001745130.1:n.473+33959C>T | ||
| XR_001745131.1:n.473+33959C>T | ||
| XR_001745132.1:n.473+33959C>T | ||
| NM_000905.4:c.158G>A MANE Select | NP_000896.1:p.Arg53Gln |