HGVS | Genome Assembly |
---|---|
NC_000023.11:g.111912005G>T , CM000685.2:g.111912005G>T | GRCh38 |
NC_000023.10:g.111155233G>T , CM000685.1:g.111155233G>T | GRCh37 |
NC_000023.9:g.111041889G>T | NCBI36 |
NG_021215.1:g.175772C>A | |
NG_021215.2:g.175772C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262839.3:c.900+286C>A MANE Select | ENSP00000262839.2:n.900+286C>A | |
ENST00000262839.2:c.900+286C>A | ENSP00000262839.2:n.900+286C>A | |
NM_012471.2:c.900+286C>A | NP_036603.1:n.900+286C>A | |
XM_017029774.1:c.900+286C>A | XP_016885263.1:n.900+286C>A | |
NM_012471.3:c.900+286C>A MANE Select | NP_036603.1:n.900+286C>A |