Linked Data
ClinVar Variation Id:
203562
dbSNP Id:
rs566325901
ExAC:
12:121177120 A / G
gnomAD v2:
12-121177120-A-G
gnomAD v3:
12-120739317-A-G
gnomAD v4:
12-120739317-A-G
PubMed:
PMID:18523805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739317A>G , CM000674.2:g.120739317A>G | GRCh38 |
| NC_000012.11:g.121177120A>G , CM000674.1:g.121177120A>G | GRCh37 |
| NC_000012.10:g.119661503A>G | NCBI36 |
| NG_007991.1:g.18550A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1108A>G MANE Select | ENSP00000242592.4:p.Met370Val | |
| ENST00000242592.8:c.1108A>G | ENSP00000242592.4:p.Met370Val | |
| ENST00000411593.2:c.1096A>G | ENSP00000401045.2:p.Met366Val | |
| NM_000017.3:c.1108A>G | NP_000008.1:p.Met370Val | |
| NM_001302554.1:c.1096A>G | NP_001289483.1:p.Met366Val | |
| NM_000017.4:c.1108A>G MANE Select | NP_000008.1:p.Met370Val | |
| NM_001302554.2:c.1096A>G | NP_001289483.1:p.Met366Val |