HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23868067T>A , CM000663.2:g.23868067T>A | GRCh38 |
NC_000001.10:g.24194557T>A , CM000663.1:g.24194557T>A | GRCh37 |
NC_000001.9:g.24067144T>A | NCBI36 |
NG_013346.1:g.5303A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374479.4:c.220A>T MANE Select | ENSP00000363603.3:p.Ser74Cys | |
ENST00000374479.3:c.220A>T | ENSP00000363603.3:p.Ser74Cys | |
NM_000147.4:c.220A>T | NP_000138.2:p.Ser74Cys | |
XM_005245821.1:c.-330A>T | XP_005245878.1:n.-330A>T | |
XM_005245821.3:c.-330A>T | XP_005245878.1:n.-330A>T | |
NM_000147.5:c.220A>T MANE Select | NP_000138.2:p.Ser74Cys | |
NR_174379.1:n.224A>T | ||
NR_174380.1:n.224A>T | ||
NR_174381.1:n.224A>T | ||
NR_174382.1:n.224A>T |