Linked Data
dbSNP Id:
rs768525725
ExAC:
1:115576068 A / G
gnomAD v2:
1-115576068-A-G
gnomAD v3:
1-115033447-A-G
gnomAD v4:
1-115033447-A-G
COSMIC:
COSM1230675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033447A>G , CM000663.2:g.115033447A>G | GRCh38 |
| NC_000001.10:g.115576068A>G , CM000663.1:g.115576068A>G | GRCh37 |
| NC_000001.9:g.115377591A>G | NCBI36 |
| NG_015891.1:g.8654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.85A>G MANE Select | ENSP00000256592.1:p.Met29Val | |
| ENST00000256592.2:c.85A>G | ENSP00000256592.1:p.Met29Val | |
| ENST00000369517.1:c.85A>G | ENSP00000358530.1:p.Met29Val | |
| NM_000549.4:c.85A>G | NP_000540.2:p.Met29Val | |
| XM_011542065.1:c.85A>G | XP_011540367.1:p.Met29Val | |
| XM_011542065.2:c.85A>G | XP_011540367.1:p.Met29Val | |
| NM_000549.5:c.85A>G MANE Select | NP_000540.2:p.Met29Val |