HGVS | Genome Assembly |
---|---|
NC_000001.11:g.2228795G>A , CM000663.2:g.2228795G>A | GRCh38 |
NC_000001.10:g.2160234G>A , CM000663.1:g.2160234G>A | GRCh37 |
NC_000001.9:g.2150094G>A | NCBI36 |
NG_013084.1:g.5101G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000704337.1:n.137+1271G>A | ||
ENST00000378536.5:c.29G>A MANE Select | ENSP00000367797.4:p.Cys10Tyr | |
ENST00000378536.4:c.29G>A | ENSP00000367797.4:p.Cys10Tyr | |
NM_003036.3:c.29G>A | NP_003027.1:p.Cys10Tyr | |
XM_005244775.2:c.29G>A | XP_005244832.1:p.Cys10Tyr | |
XM_005244775.3:c.29G>A | XP_005244832.1:p.Cys10Tyr | |
NM_003036.4:c.29G>A MANE Select | NP_003027.1:p.Cys10Tyr |