HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136673912T>A , CM000671.2:g.136673912T>A | GRCh38 |
NC_000009.11:g.139568364T>A , CM000671.1:g.139568364T>A | GRCh37 |
NC_000009.10:g.138688185T>A | NCBI36 |
NG_008090.1:g.18548A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.677A>T MANE Select | ENSP00000360761.2:p.Gln226Leu | |
ENST00000371694.7:c.581A>T | ENSP00000360759.3:p.Gln194Leu | |
ENST00000371696.6:c.677A>T | ENSP00000360761.2:p.Gln226Leu | |
ENST00000472820.1:n.605A>T | ||
ENST00000538402.1:c.677A>T | ENSP00000438919.1:p.Gln226Leu | |
NM_001012727.1:c.581A>T | NP_001012745.1:p.Gln194Leu | |
NM_006412.3:c.677A>T | NP_006403.2:p.Gln226Leu | |
NM_006412.4:c.677A>T MANE Select | NP_006403.2:p.Gln226Leu | |
NM_001012727.2:c.581A>T | NP_001012745.1:p.Gln194Leu |