HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759977T>A , CM000686.2:g.20759977T>A | GRCh38 |
NC_000024.9:g.22921863T>A , CM000686.1:g.22921863T>A | GRCh37 |
NC_000024.8:g.21331251T>A | NCBI36 |
NG_032924.1:g.8910T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.191T>A MANE Select | ENSP00000486252.1:p.Ile64Lys | |
ENST00000629237.1:c.191T>A | ENSP00000486252.1:p.Ile64Lys | |
NM_001039567.2:c.191T>A | NP_001034656.1:p.Ile64Lys | |
XM_011531423.1:c.140T>A | XP_011529725.1:p.Ile47Lys | |
NM_001039567.3:c.191T>A MANE Select | NP_001034656.1:p.Ile64Lys |