HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759977T>G , CM000686.2:g.20759977T>G | GRCh38 |
NC_000024.9:g.22921863T>G , CM000686.1:g.22921863T>G | GRCh37 |
NC_000024.8:g.21331251T>G | NCBI36 |
NG_032924.1:g.8910T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.191T>G MANE Select | ENSP00000486252.1:p.Ile64Arg | |
ENST00000629237.1:c.191T>G | ENSP00000486252.1:p.Ile64Arg | |
NM_001039567.2:c.191T>G | NP_001034656.1:p.Ile64Arg | |
XM_011531423.1:c.140T>G | XP_011529725.1:p.Ile47Arg | |
NM_001039567.3:c.191T>G MANE Select | NP_001034656.1:p.Ile64Arg |