HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717990G>C , CM000674.2:g.12717990G>C | GRCh38 |
NC_000012.11:g.12870924G>C , CM000674.1:g.12870924G>C | GRCh37 |
NC_000012.10:g.12762191G>C | NCBI36 |
NG_016341.1:g.5623G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.151G>C | ENSP00000507272.1:p.Asp51His | |
ENST00000682620.1:n.1631-835G>C | ||
ENST00000684771.1:n.585-835G>C | ||
ENST00000228872.9:c.151G>C MANE Select | ENSP00000228872.4:p.Asp51His | |
ENST00000228872.8:c.151G>C | ENSP00000228872.4:p.Asp51His | |
ENST00000396340.1:c.151G>C | ENSP00000379629.1:p.Asp51His | |
ENST00000442489.1:c.130G>C | ENSP00000407597.1:p.Asp44His | |
ENST00000477087.1:n.155-835G>C | ||
NM_004064.4:c.151G>C | NP_004055.1:p.Asp51His | |
NM_004064.5:c.151G>C MANE Select | NP_004055.1:p.Asp51His |