Linked Data
dbSNP Id:
rs768514842
ExAC:
7:17379268 C / G
gnomAD v2:
7-17379268-C-G
gnomAD v3:
7-17339644-C-G
gnomAD v4:
7-17339644-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339644C>G , CM000669.2:g.17339644C>G | GRCh38 |
| NC_000007.13:g.17379268C>G , CM000669.1:g.17379268C>G | GRCh37 |
| NC_000007.12:g.17345793C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1819C>G MANE Select | ENSP00000242057.4:p.Leu607Val | |
| ENST00000637807.1:c.1789C>G | ENSP00000490530.1:p.Leu597Val | |
| ENST00000642825.1:c.1774C>G | ENSP00000495987.1:p.Leu592Val | |
| ENST00000242057.8:c.1819C>G | ENSP00000242057.4:p.Leu607Val | |
| ENST00000463496.1:c.1819C>G | ENSP00000436466.1:p.Leu607Val | |
| NM_001621.4:c.1819C>G | NP_001612.1:p.Leu607Val | |
| NM_001621.5:c.1819C>G MANE Select | NP_001612.1:p.Leu607Val |