HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759992T>G , CM000686.2:g.20759992T>G | GRCh38 |
NC_000024.9:g.22921878T>G , CM000686.1:g.22921878T>G | GRCh37 |
NC_000024.8:g.21331266T>G | NCBI36 |
NG_032924.1:g.8925T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.206T>G MANE Select | ENSP00000486252.1:p.Phe69Cys | |
ENST00000629237.1:c.206T>G | ENSP00000486252.1:p.Phe69Cys | |
NM_001039567.2:c.206T>G | NP_001034656.1:p.Phe69Cys | |
XM_011531423.1:c.155T>G | XP_011529725.1:p.Phe52Cys | |
NM_001039567.3:c.206T>G MANE Select | NP_001034656.1:p.Phe69Cys |