HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339580C>A , CM000669.2:g.17339580C>A | GRCh38 |
NC_000007.13:g.17379204C>A , CM000669.1:g.17379204C>A | GRCh37 |
NC_000007.12:g.17345729C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1755C>A MANE Select | ENSP00000242057.4:p.Val585= | |
ENST00000637807.1:c.1725C>A | ENSP00000490530.1:p.Val575= | |
ENST00000642825.1:c.1710C>A | ENSP00000495987.1:p.Val570= | |
ENST00000242057.8:c.1755C>A | ENSP00000242057.4:p.Val585= | |
ENST00000463496.1:c.1755C>A | ENSP00000436466.1:p.Val585= | |
NM_001621.4:c.1755C>A | NP_001612.1:p.Val585= | |
NM_001621.5:c.1755C>A MANE Select | NP_001612.1:p.Val585= |