HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23868050C>G , CM000663.2:g.23868050C>G | GRCh38 |
NC_000001.10:g.24194540C>G , CM000663.1:g.24194540C>G | GRCh37 |
NC_000001.9:g.24067127C>G | NCBI36 |
NG_013346.1:g.5320G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374479.4:c.237G>C MANE Select | ENSP00000363603.3:p.Trp79Cys | |
ENST00000374479.3:c.237G>C | ENSP00000363603.3:p.Trp79Cys | |
NM_000147.4:c.237G>C | NP_000138.2:p.Trp79Cys | |
XM_005245821.1:c.-313G>C | XP_005245878.1:n.-313G>C | |
XM_005245821.3:c.-313G>C | XP_005245878.1:n.-313G>C | |
NM_000147.5:c.237G>C MANE Select | NP_000138.2:p.Trp79Cys | |
NR_174379.1:n.241G>C | ||
NR_174380.1:n.241G>C | ||
NR_174381.1:n.241G>C | ||
NR_174382.1:n.241G>C |