HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738731C>G , CM000674.2:g.120738731C>G | GRCh38 |
NC_000012.11:g.121176534C>G , CM000674.1:g.121176534C>G | GRCh37 |
NC_000012.10:g.119660917C>G | NCBI36 |
NG_007991.1:g.17964C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.933+61C>G MANE Select | ENSP00000242592.4:n.933+61C>G | |
ENST00000242592.8:c.933+61C>G | ENSP00000242592.4:n.933+61C>G | |
ENST00000411593.2:c.921+61C>G | ENSP00000401045.2:n.921+61C>G | |
NM_000017.3:c.933+61C>G | NP_000008.1:n.933+61C>G | |
NM_001302554.1:c.921+61C>G | NP_001289483.1:n.921+61C>G | |
NM_000017.4:c.933+61C>G MANE Select | NP_000008.1:n.933+61C>G | |
NM_001302554.2:c.921+61C>G | NP_001289483.1:n.921+61C>G |