HGVS | Genome Assembly |
---|---|
NC_000017.11:g.70175267T>G , CM000679.2:g.70175267T>G | GRCh38 |
NC_000017.10:g.68171408T>G , CM000679.1:g.68171408T>G | GRCh37 |
NC_000017.9:g.65683003T>G | NCBI36 |
NG_008798.1:g.10733T>G , LRG_328:g.10733T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000243457.4:c.228T>G MANE Select | ENSP00000243457.2:p.Cys76Trp | |
ENST00000243457.3:c.228T>G | ENSP00000243457.2:p.Cys76Trp | |
ENST00000535240.1:c.228T>G | ENSP00000441848.1:p.Cys76Trp | |
NM_000891.2:c.228T>G , LRG_328t1:c.228T>G | NP_000882.1:p.Cys76Trp | |
XM_011524779.1:c.228T>G | XP_011523081.1:p.Cys76Trp | |
NM_000891.3:c.228T>G MANE Select | NP_000882.1:p.Cys76Trp |