HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20760001T>C , CM000686.2:g.20760001T>C | GRCh38 |
NC_000024.9:g.22921887T>C , CM000686.1:g.22921887T>C | GRCh37 |
NC_000024.8:g.21331275T>C | NCBI36 |
NG_032924.1:g.8934T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.215T>C MANE Select | ENSP00000486252.1:p.Ile72Thr | |
ENST00000629237.1:c.215T>C | ENSP00000486252.1:p.Ile72Thr | |
NM_001039567.2:c.215T>C | NP_001034656.1:p.Ile72Thr | |
XM_011531423.1:c.164T>C | XP_011529725.1:p.Ile55Thr | |
NM_001039567.3:c.215T>C MANE Select | NP_001034656.1:p.Ile72Thr |