HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213526A>G , CM000667.2:g.1213526A>G | GRCh38 |
NC_000005.9:g.1213641A>G , CM000667.1:g.1213641A>G | GRCh37 |
NC_000005.8:g.1266641A>G | NCBI36 |
NG_008282.1:g.16932A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304460.11:c.727A>G MANE Select | ENSP00000305302.10:p.Thr243Ala | |
ENST00000304460.10:c.727A>G | ENSP00000305302.10:p.Thr243Ala | |
ENST00000515652.5:c.635A>G | ENSP00000425701.1:p.Asp212Gly | |
NM_001003841.2:c.727A>G | NP_001003841.1:p.Thr243Ala | |
NM_001003841.3:c.727A>G MANE Select | NP_001003841.1:p.Thr243Ala |