HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339605T>A , CM000669.2:g.17339605T>A | GRCh38 |
NC_000007.13:g.17379229T>A , CM000669.1:g.17379229T>A | GRCh37 |
NC_000007.12:g.17345754T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1780T>A MANE Select | ENSP00000242057.4:p.Phe594Ile | |
ENST00000637807.1:c.1750T>A | ENSP00000490530.1:p.Phe584Ile | |
ENST00000642825.1:c.1735T>A | ENSP00000495987.1:p.Phe579Ile | |
ENST00000242057.8:c.1780T>A | ENSP00000242057.4:p.Phe594Ile | |
ENST00000463496.1:c.1780T>A | ENSP00000436466.1:p.Phe594Ile | |
NM_001621.4:c.1780T>A | NP_001612.1:p.Phe594Ile | |
NM_001621.5:c.1780T>A MANE Select | NP_001612.1:p.Phe594Ile |