HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136676644C>A , CM000671.2:g.136676644C>A | GRCh38 |
NC_000009.11:g.139571096C>A , CM000671.1:g.139571096C>A | GRCh37 |
NC_000009.10:g.138690917C>A | NCBI36 |
NG_008090.1:g.15816G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.529G>T MANE Select | ENSP00000360761.2:p.Asp177Tyr | |
ENST00000371694.7:c.492+317G>T | ENSP00000360759.3:n.492+317G>T | |
ENST00000371696.6:c.529G>T | ENSP00000360761.2:p.Asp177Tyr | |
ENST00000472820.1:n.457G>T | ||
ENST00000538402.1:c.529G>T | ENSP00000438919.1:p.Asp177Tyr | |
NM_001012727.1:c.492+317G>T | NP_001012745.1:n.492+317G>T | |
NM_006412.3:c.529G>T | NP_006403.2:p.Asp177Tyr | |
NM_006412.4:c.529G>T MANE Select | NP_006403.2:p.Asp177Tyr | |
NM_001012727.2:c.492+317G>T | NP_001012745.1:n.492+317G>T |