HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673897A>G , CM000671.2:g.136673897A>G | GRCh38 |
NC_000009.11:g.139568349A>G , CM000671.1:g.139568349A>G | GRCh37 |
NC_000009.10:g.138688170A>G | NCBI36 |
NG_008090.1:g.18563T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.692T>C MANE Select | ENSP00000360761.2:p.Ile231Thr | |
ENST00000371694.7:c.596T>C | ENSP00000360759.3:p.Ile199Thr | |
ENST00000371696.6:c.692T>C | ENSP00000360761.2:p.Ile231Thr | |
ENST00000472820.1:n.620T>C | ||
ENST00000538402.1:c.692T>C | ENSP00000438919.1:p.Ile231Thr | |
NM_001012727.1:c.596T>C | NP_001012745.1:p.Ile199Thr | |
NM_006412.3:c.692T>C | NP_006403.2:p.Ile231Thr | |
NM_006412.4:c.692T>C MANE Select | NP_006403.2:p.Ile231Thr | |
NM_001012727.2:c.596T>C | NP_001012745.1:p.Ile199Thr |