HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350155G>A , CM000672.2:g.47350155G>A | GRCh38 |
NC_000010.10:g.48389207C>T , CM000672.1:g.48389207C>T | GRCh37 |
NC_000010.9:g.48009213C>T | NCBI36 |
NG_029718.1:g.6785G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1671G>A MANE Select | ENSP00000463151.1:p.Gln557= | |
ENST00000584701.1:c.1671G>A | ENSP00000463151.1:p.Gln557= | |
NM_002900.2:c.1671G>A | NP_002891.1:p.Gln557= | |
NM_002900.3:c.1671G>A MANE Select | NP_002891.1:p.Gln557= |