HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131858667G>T , CM000668.2:g.131858667G>T | GRCh38 |
NC_000006.11:g.132179807G>T , CM000668.1:g.132179807G>T | GRCh37 |
NC_000006.10:g.132221500G>T | NCBI36 |
NG_008206.1:g.55652G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647893.1:c.716-1G>T MANE Select | ENSP00000498074.1:n.716-1G>T | |
ENST00000650147.1:c.333-1G>T | ||
ENST00000650437.1:c.207-1G>T | ||
ENST00000360971.6:c.716-1G>T | ENSP00000354238.2:n.716-1G>T | |
ENST00000513998.5:c.716-1G>T | ENSP00000422424.1:n.716-1G>T | |
NM_006208.2:c.716-1G>T | NP_006199.2:n.716-1G>T | |
NM_006208.3:c.716-1G>T MANE Select | NP_006199.2:n.716-1G>T |