HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451626T>A , CM000674.2:g.52451626T>A | GRCh38 |
NC_000012.11:g.52845410T>A , CM000674.1:g.52845410T>A | GRCh37 |
NC_000012.10:g.51131677T>A | NCBI36 |
NG_008299.1:g.5501A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.453A>T MANE Select | ENSP00000252252.3:p.Gln151His | |
ENST00000252252.3:c.453A>T | ENSP00000252252.3:p.Gln151His | |
NM_005555.3:c.453A>T | NP_005546.2:p.Gln151His | |
NM_005555.4:c.453A>T MANE Select | NP_005546.2:p.Gln151His |