HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320764G>T , CM000666.2:g.119320764G>T | GRCh38 |
NC_000004.11:g.120241919G>T , CM000666.1:g.120241919G>T | GRCh37 |
NC_000004.10:g.120461367G>T | NCBI36 |
NG_011444.1:g.6398C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.146C>A MANE Select | ENSP00000274024.3:p.Thr49Lys | |
ENST00000274024.3:c.146C>A | ENSP00000274024.3:p.Thr49Lys | |
NM_000134.3:c.146C>A | NP_000125.2:p.Thr49Lys | |
NM_000134.4:c.146C>A MANE Select | NP_000125.2:p.Thr49Lys |