HGVS | Genome Assembly |
---|---|
NC_000015.10:g.51681964G>A , CM000677.2:g.51681964G>A | GRCh38 |
NC_000015.9:g.51974161G>A , CM000677.1:g.51974161G>A | GRCh37 |
NC_000015.8:g.49761453G>A | NCBI36 |
NG_013214.1:g.5612G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000220478.8:c.82+127G>A MANE Select | ENSP00000220478.3:n.82+127G>A | |
ENST00000220478.7:c.82+127G>A | ENSP00000220478.3:n.82+127G>A | |
ENST00000542355.6:c.-562+127G>A | ENSP00000445205.2:n.-562+127G>A | |
ENST00000558709.1:c.-419+127G>A | ENSP00000452745.1:n.-419+127G>A | |
NM_001165257.1:c.-562+127G>A | NP_001158729.1:n.-562+127G>A | |
NM_013243.3:c.82+127G>A | NP_037375.2:n.82+127G>A | |
NM_013243.4:c.82+127G>A MANE Select | NP_037375.2:n.82+127G>A | |
NM_001165257.2:c.-562+127G>A | NP_001158729.1:n.-562+127G>A |