Linked Data
ClinVar Variation Id:
1009304
ClinVar RCV Id:
RCV001306773
dbSNP Id:
rs776554950
ExAC:
7:17379283 A / G
gnomAD v2:
7-17379283-A-G
gnomAD v4:
7-17339659-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339659A>G , CM000669.2:g.17339659A>G | GRCh38 |
| NC_000007.13:g.17379283A>G , CM000669.1:g.17379283A>G | GRCh37 |
| NC_000007.12:g.17345808A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1834A>G MANE Select | ENSP00000242057.4:p.Met612Val | |
| ENST00000637807.1:c.1804A>G | ENSP00000490530.1:p.Met602Val | |
| ENST00000642825.1:c.1789A>G | ENSP00000495987.1:p.Met597Val | |
| ENST00000242057.8:c.1834A>G | ENSP00000242057.4:p.Met612Val | |
| ENST00000463496.1:c.1834A>G | ENSP00000436466.1:p.Met612Val | |
| NM_001621.4:c.1834A>G | NP_001612.1:p.Met612Val | |
| NM_001621.5:c.1834A>G MANE Select | NP_001612.1:p.Met612Val |