HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431406C>T , CM000663.2:g.68431406C>T | GRCh38 |
NC_000001.10:g.68897089C>T , CM000663.1:g.68897089C>T | GRCh37 |
NC_000001.9:g.68669677C>T | NCBI36 |
NG_008472.1:g.23554G>A | |
NG_008472.2:g.23554G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1244-30G>A MANE Select | ENSP00000262340.5:n.1244-30G>A | |
ENST00000262340.5:c.1244-30G>A | ENSP00000262340.5:n.1244-30G>A | |
NM_000329.2:c.1244-30G>A | NP_000320.1:n.1244-30G>A | |
XM_017002027.1:c.968-30G>A | XP_016857516.1:n.968-30G>A | |
NM_000329.3:c.1244-30G>A MANE Select | NP_000320.1:n.1244-30G>A |