Linked Data
dbSNP Id:
rs1049166702
gnomAD v2:
13-28498632-G-A
gnomAD v4:
13-27924495-G-A
COSMIC:
COSM4937202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924495G>A , CM000675.2:g.27924495G>A | GRCh38 |
| NC_000013.10:g.28498632G>A , CM000675.1:g.28498632G>A | GRCh37 |
| NC_000013.9:g.27396632G>A | NCBI36 |
| NG_008183.1:g.9465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.646G>A MANE Select | ENSP00000370421.4:p.Gly216Arg | |
| ENST00000381033.4:c.646G>A | ENSP00000370421.4:p.Gly216Arg | |
| NM_000209.3:c.646G>A | NP_000200.1:p.Gly216Arg | |
| NM_000209.4:c.646G>A MANE Select | NP_000200.1:p.Gly216Arg |