HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339643T>G , CM000669.2:g.17339643T>G | GRCh38 |
NC_000007.13:g.17379267T>G , CM000669.1:g.17379267T>G | GRCh37 |
NC_000007.12:g.17345792T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1818T>G MANE Select | ENSP00000242057.4:p.Ala606= | |
ENST00000637807.1:c.1788T>G | ENSP00000490530.1:p.Ala596= | |
ENST00000642825.1:c.1773T>G | ENSP00000495987.1:p.Ala591= | |
ENST00000242057.8:c.1818T>G | ENSP00000242057.4:p.Ala606= | |
ENST00000463496.1:c.1818T>G | ENSP00000436466.1:p.Ala606= | |
NM_001621.4:c.1818T>G | NP_001612.1:p.Ala606= | |
NM_001621.5:c.1818T>G MANE Select | NP_001612.1:p.Ala606= |