HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827559A>G , CM000667.2:g.148827559A>G | GRCh38 |
NC_000005.9:g.148207122A>G , CM000667.1:g.148207122A>G | GRCh37 |
NC_000005.8:g.148187315A>G | NCBI36 |
NG_016421.1:g.5967A>G | |
NG_016421.2:g.5967A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.728A>G MANE Select | ENSP00000305372.4:p.Gln243Arg | |
ENST00000305988.5:c.728A>G | ENSP00000305372.4:p.Gln243Arg | |
NM_000024.5:c.728A>G | NP_000015.1:p.Gln243Arg | |
NM_000024.6:c.728A>G MANE Select | NP_000015.2:p.Gln243Arg |