HGVS | Genome Assembly |
---|---|
NC_000015.10:g.51682083C>G , CM000677.2:g.51682083C>G | GRCh38 |
NC_000015.9:g.51974280C>G , CM000677.1:g.51974280C>G | GRCh37 |
NC_000015.8:g.49761572C>G | NCBI36 |
NG_013214.1:g.5731C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000220478.8:c.82+246C>G MANE Select | ENSP00000220478.3:n.82+246C>G | |
ENST00000220478.7:c.82+246C>G | ENSP00000220478.3:n.82+246C>G | |
ENST00000542355.6:c.-562+246C>G | ENSP00000445205.2:n.-562+246C>G | |
ENST00000558709.1:c.-419+246C>G | ENSP00000452745.1:n.-419+246C>G | |
NM_001165257.1:c.-562+246C>G | NP_001158729.1:n.-562+246C>G | |
NM_013243.3:c.82+246C>G | NP_037375.2:n.82+246C>G | |
NM_013243.4:c.82+246C>G MANE Select | NP_037375.2:n.82+246C>G | |
NM_001165257.2:c.-562+246C>G | NP_001158729.1:n.-562+246C>G |