HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8015861G>T , CM000679.2:g.8015861G>T | GRCh38 |
NC_000017.10:g.7919179G>T , CM000679.1:g.7919179G>T | GRCh37 |
NC_000017.9:g.7859904G>T | NCBI36 |
NG_009092.1:g.18192G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.3043+20G>T MANE Select | ENSP00000254854.4:n.3043+20G>T | |
ENST00000254854.4:c.3043+20G>T | ENSP00000254854.4:n.3043+20G>T | |
NM_000180.3:c.3043+20G>T | NP_000171.1:n.3043+20G>T | |
XM_011523816.1:c.3043+20G>T | XP_011522118.1:n.3043+20G>T | |
NM_000180.4:c.3043+20G>T MANE Select | NP_000171.1:n.3043+20G>T |