HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228655C>T , CM000673.2:g.112228655C>T | GRCh38 |
NC_000011.9:g.112099378C>T , CM000673.1:g.112099378C>T | GRCh37 |
NC_000011.8:g.111604588C>T | NCBI36 |
NG_008743.1:g.7291C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000280362.8:c.145C>T MANE Select | ENSP00000280362.3:p.His49Tyr | |
ENST00000280362.7:c.145C>T | ENSP00000280362.3:p.His49Tyr | |
ENST00000524931.1:c.-60C>T | ENSP00000434688.1:n.-60C>T | |
ENST00000525645.1:n.220C>T | ||
ENST00000525803.1:c.145C>T | ENSP00000431750.1:p.His49Tyr | |
ENST00000528679.5:c.145C>T | ENSP00000435895.1:p.His49Tyr | |
ENST00000531673.5:c.145C>T | ENSP00000433469.1:p.His49Tyr | |
NM_000317.2:c.145C>T | NP_000308.1:p.His49Tyr | |
NM_000317.3:c.145C>T MANE Select | NP_000308.1:p.His49Tyr |