HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131832730G>T , CM000668.2:g.131832730G>T | GRCh38 |
NC_000006.11:g.132153870G>T , CM000668.1:g.132153870G>T | GRCh37 |
NC_000006.10:g.132195563G>T | NCBI36 |
NG_008206.1:g.29715G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647893.1:c.241-15046G>T MANE Select | ENSP00000498074.1:n.241-15046G>T | |
ENST00000650507.1:c.247+6615G>T | ENSP00000497375.1:n.247+6615G>T | |
ENST00000360971.6:c.241-15046G>T | ENSP00000354238.2:n.241-15046G>T | |
ENST00000486853.1:n.261-15046G>T | ||
ENST00000513998.5:c.241-15046G>T | ENSP00000422424.1:n.241-15046G>T | |
NM_006208.2:c.241-15046G>T | NP_006199.2:n.241-15046G>T | |
NM_006208.3:c.241-15046G>T MANE Select | NP_006199.2:n.241-15046G>T |