HGVS | Genome Assembly |
---|---|
NC_000005.10:g.33944798G>A , CM000667.2:g.33944798G>A | GRCh38 |
NC_000005.9:g.33944903G>A , CM000667.1:g.33944903G>A | GRCh37 |
NC_000005.8:g.33980660G>A | NCBI36 |
NG_011691.2:g.44878C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296589.9:c.1443C>T MANE Select | ENSP00000296589.4:p.Cys481= | |
ENST00000296589.8:c.1443C>T | ENSP00000296589.4:p.Cys481= | |
NM_016180.4:c.1443C>T | NP_057264.3:p.Cys481= | |
XM_011514051.1:c.1041C>T | XP_011512353.1:p.Cys347= | |
NM_016180.5:c.1443C>T MANE Select | NP_057264.4:p.Cys481= |