HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155811843C>T , CM000669.2:g.155811843C>T | GRCh38 |
NC_000007.13:g.155604537C>T , CM000669.1:g.155604537C>T | GRCh37 |
NC_000007.12:g.155297298C>T | NCBI36 |
NG_007504.2:g.5431G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297261.7:c.280G>A MANE Select | ENSP00000297261.2:p.Ala94Thr | |
ENST00000297261.6:c.280G>A | ENSP00000297261.2:p.Ala94Thr | |
NM_000193.2:c.280G>A | NP_000184.1:p.Ala94Thr | |
NM_000193.3:c.280G>A | NP_000184.1:p.Ala94Thr | |
NM_000193.4:c.280G>A MANE Select | NP_000184.1:p.Ala94Thr |