HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131861517G>C , CM000668.2:g.131861517G>C | GRCh38 |
NC_000006.11:g.132182657G>C , CM000668.1:g.132182657G>C | GRCh37 |
NC_000006.10:g.132224350G>C | NCBI36 |
NG_008206.1:g.58502G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647893.1:c.916-78G>C MANE Select | ENSP00000498074.1:n.916-78G>C | |
ENST00000650147.1:c.533-78G>C | ||
ENST00000650437.1:c.407-78G>C | ||
ENST00000360971.6:c.916-78G>C | ENSP00000354238.2:n.916-78G>C | |
ENST00000513998.5:c.916-78G>C | ENSP00000422424.1:n.916-78G>C | |
NM_006208.2:c.916-78G>C | NP_006199.2:n.916-78G>C | |
NM_006208.3:c.916-78G>C MANE Select | NP_006199.2:n.916-78G>C |