HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64752731G>C , CM000673.2:g.64752731G>C | GRCh38 |
NC_000011.9:g.64520203G>C , CM000673.1:g.64520203G>C | GRCh37 |
NC_000011.8:g.64276779G>C | NCBI36 |
NG_013018.1:g.12985C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1519-227C>G MANE Select | ENSP00000164139.3:n.1519-227C>G | |
ENST00000164139.3:c.1519-227C>G | ENSP00000164139.3:n.1519-227C>G | |
ENST00000377432.7:c.1255-227C>G | ENSP00000366650.3:n.1255-227C>G | |
NM_001164716.1:c.1255-227C>G | NP_001158188.1:n.1255-227C>G | |
NM_005609.2:c.1519-227C>G | NP_005600.1:n.1519-227C>G | |
NM_005609.3:c.1519-227C>G | NP_005600.1:n.1519-227C>G | |
NM_005609.4:c.1519-227C>G MANE Select | NP_005600.1:n.1519-227C>G |