HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827560G>T , CM000667.2:g.148827560G>T | GRCh38 |
NC_000005.9:g.148207123G>T , CM000667.1:g.148207123G>T | GRCh37 |
NC_000005.8:g.148187316G>T | NCBI36 |
NG_016421.1:g.5968G>T | |
NG_016421.2:g.5968G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.729G>T MANE Select | ENSP00000305372.4:p.Gln243His | |
ENST00000305988.5:c.729G>T | ENSP00000305372.4:p.Gln243His | |
NM_000024.5:c.729G>T | NP_000015.1:p.Gln243His | |
NM_000024.6:c.729G>T MANE Select | NP_000015.2:p.Gln243His |