HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673901C>T , CM000671.2:g.136673901C>T | GRCh38 |
NC_000009.11:g.139568353C>T , CM000671.1:g.139568353C>T | GRCh37 |
NC_000009.10:g.138688174C>T | NCBI36 |
NG_008090.1:g.18559G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.688G>A MANE Select | ENSP00000360761.2:p.Ala230Thr | |
ENST00000371694.7:c.592G>A | ENSP00000360759.3:p.Ala198Thr | |
ENST00000371696.6:c.688G>A | ENSP00000360761.2:p.Ala230Thr | |
ENST00000472820.1:n.616G>A | ||
ENST00000538402.1:c.688G>A | ENSP00000438919.1:p.Ala230Thr | |
NM_001012727.1:c.592G>A | NP_001012745.1:p.Ala198Thr | |
NM_006412.3:c.688G>A | NP_006403.2:p.Ala230Thr | |
NM_006412.4:c.688G>A MANE Select | NP_006403.2:p.Ala230Thr | |
NM_001012727.2:c.592G>A | NP_001012745.1:p.Ala198Thr |