HGVS | Genome Assembly |
---|---|
NC_000007.14:g.121329715G>T , CM000669.2:g.121329715G>T | GRCh38 |
NC_000007.13:g.120969769G>T , CM000669.1:g.120969769G>T | GRCh37 |
NC_000007.12:g.120757005G>T | NCBI36 |
NG_029242.1:g.9349G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222462.3:c.244G>T MANE Select | ENSP00000222462.2:p.Gly82Trp | |
ENST00000222462.2:c.244G>T | ENSP00000222462.2:p.Gly82Trp | |
ENST00000361301.6:c.214G>T | ENSP00000355065.2:p.Gly72Trp | |
NM_016087.2:c.214G>T | NP_057171.2:p.Gly72Trp | |
NM_057168.1:c.244G>T | NP_476509.1:p.Gly82Trp | |
NM_057168.2:c.244G>T MANE Select | NP_476509.1:p.Gly82Trp |