HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20760000A>C , CM000686.2:g.20760000A>C | GRCh38 |
NC_000024.9:g.22921886A>C , CM000686.1:g.22921886A>C | GRCh37 |
NC_000024.8:g.21331274A>C | NCBI36 |
NG_032924.1:g.8933A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.214A>C MANE Select | ENSP00000486252.1:p.Ile72Leu | |
ENST00000629237.1:c.214A>C | ENSP00000486252.1:p.Ile72Leu | |
NM_001039567.2:c.214A>C | NP_001034656.1:p.Ile72Leu | |
XM_011531423.1:c.163A>C | XP_011529725.1:p.Ile55Leu | |
NM_001039567.3:c.214A>C MANE Select | NP_001034656.1:p.Ile72Leu |