HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759994C>A , CM000686.2:g.20759994C>A | GRCh38 |
NC_000024.9:g.22921880C>A , CM000686.1:g.22921880C>A | GRCh37 |
NC_000024.8:g.21331268C>A | NCBI36 |
NG_032924.1:g.8927C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.208C>A MANE Select | ENSP00000486252.1:p.Leu70Ile | |
ENST00000629237.1:c.208C>A | ENSP00000486252.1:p.Leu70Ile | |
NM_001039567.2:c.208C>A | NP_001034656.1:p.Leu70Ile | |
XM_011531423.1:c.157C>A | XP_011529725.1:p.Leu53Ile | |
NM_001039567.3:c.208C>A MANE Select | NP_001034656.1:p.Leu70Ile |