HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1401346C>T , CM000681.2:g.1401346C>T | GRCh38 |
NC_000019.9:g.1401345C>T , CM000681.1:g.1401345C>T | GRCh37 |
NC_000019.8:g.1352345C>T | NCBI36 |
NG_009785.1:g.5208G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252288.8:c.131G>A MANE Select | ENSP00000252288.1:p.Arg44His | |
ENST00000447102.8:c.131G>A | ENSP00000403536.2:p.Arg44His | |
ENST00000640762.1:c.112+19G>A | ENSP00000492031.1:n.112+19G>A | |
ENST00000252288.6:c.131G>A | ENSP00000252288.1:p.Arg44His | |
ENST00000447102.7:c.131G>A | ENSP00000403536.2:p.Arg44His | |
NM_000156.5:c.131G>A | NP_000147.1:p.Arg44His | |
NM_138924.2:c.131G>A | NP_620279.1:p.Arg44His | |
NM_000156.6:c.131G>A MANE Select | NP_000147.1:p.Arg44His | |
NM_138924.3:c.131G>A | NP_620279.1:p.Arg44His |