HGVS | Genome Assembly |
---|---|
NC_000001.11:g.22141722C>T , CM000663.2:g.22141722C>T | GRCh38 |
NC_000001.10:g.22468215C>T , CM000663.1:g.22468215C>T | GRCh37 |
NC_000001.9:g.22340802C>T | NCBI36 |
NG_008974.1:g.6305G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290167.11:c.77+1124G>A MANE Select | ENSP00000290167.5:n.77+1124G>A | |
ENST00000290167.10:c.77+1124G>A | ENSP00000290167.5:n.77+1124G>A | |
ENST00000441048.1:c.-89+2010G>A | ENSP00000388925.1:n.-89+2010G>A | |
NM_030761.4:c.77+1124G>A | NP_110388.2:n.77+1124G>A | |
XM_011541597.1:c.-922G>A | XP_011539899.1:n.-922G>A | |
XM_011541598.1:c.-89+2010G>A | XP_011539900.1:n.-89+2010G>A | |
XR_947050.1:n.53+717C>T | ||
XM_011541597.2:c.-922G>A | XP_011539899.1:n.-922G>A | |
XM_011541598.2:c.-89+2010G>A | XP_011539900.1:n.-89+2010G>A | |
NM_030761.5:c.77+1124G>A MANE Select | NP_110388.2:n.77+1124G>A |