HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280914C>T , CM000679.2:g.58280914C>T | GRCh38 |
NC_000017.10:g.56358275C>T , CM000679.1:g.56358275C>T | GRCh37 |
NC_000017.9:g.53713274C>T | NCBI36 |
NG_009629.1:g.5022G>A , LRG_84:g.5022G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225275.4:c.-156G>A MANE Select | ENSP00000225275.3:n.-156G>A | |
ENST00000225275.3:c.-156G>A | ENSP00000225275.3:n.-156G>A | |
NM_000250.1:c.-156G>A , LRG_84t1:c.-156G>A | NP_000241.1:n.-156G>A | |
XM_011524821.1:c.215+11G>A | XP_011523123.1:n.215+11G>A | |
XM_011524823.1:c.215+11G>A | XP_011523125.1:n.215+11G>A | |
NM_000250.2:c.-156G>A MANE Select | NP_000241.1:n.-156G>A |