HGVS | Genome Assembly |
---|---|
NC_000001.11:g.22120364G>A , CM000663.2:g.22120364G>A | GRCh38 |
NC_000001.10:g.22446857G>A , CM000663.1:g.22446857G>A | GRCh37 |
NC_000001.9:g.22319444G>A | NCBI36 |
NG_008974.1:g.27663C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290167.11:c.742C>T MANE Select | ENSP00000290167.5:p.Arg248Cys | |
ENST00000290167.10:c.742C>T | ENSP00000290167.5:p.Arg248Cys | |
NM_030761.4:c.742C>T | NP_110388.2:p.Arg248Cys | |
XM_011541597.1:c.808C>T | XP_011539899.1:p.Arg270Cys | |
XM_011541598.1:c.577C>T | XP_011539900.1:p.Arg193Cys | |
XM_011541597.2:c.808C>T | XP_011539899.1:p.Arg270Cys | |
XM_011541598.2:c.577C>T | XP_011539900.1:p.Arg193Cys | |
NM_030761.5:c.742C>T MANE Select | NP_110388.2:p.Arg248Cys |