HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451648A>T , CM000674.2:g.52451648A>T | GRCh38 |
NC_000012.11:g.52845432A>T , CM000674.1:g.52845432A>T | GRCh37 |
NC_000012.10:g.51131699A>T | NCBI36 |
NG_008299.1:g.5479T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.431T>A MANE Select | ENSP00000252252.3:p.Leu144His | |
ENST00000252252.3:c.431T>A | ENSP00000252252.3:p.Leu144His | |
NM_005555.3:c.431T>A | NP_005546.2:p.Leu144His | |
NM_005555.4:c.431T>A MANE Select | NP_005546.2:p.Leu144His |