HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42949617G>T , CM000663.2:g.42949617G>T | GRCh38 |
NC_000001.10:g.43415288G>T , CM000663.1:g.43415288G>T | GRCh37 |
NC_000001.9:g.43187875G>T | NCBI36 |
NG_008232.1:g.14560C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000426263.10:c.19-6296C>A MANE Select | ENSP00000416293.2:n.19-6296C>A | |
ENST00000674765.1:c.19-6296C>A | ENSP00000501811.1:n.19-6296C>A | |
ENST00000675112.1:n.42-6296C>A | ||
ENST00000372500.4:c.18+9017C>A | ENSP00000361578.4:n.18+9017C>A | |
ENST00000415851.6:n.236-6296C>A | ||
ENST00000426263.7:c.19-6296C>A | ENSP00000416293.2:n.19-6296C>A | |
ENST00000625233.2:n.227-6296C>A | ||
ENST00000628173.1:n.238-6296C>A | ||
ENST00000630287.2:c.19-6296C>A | ENSP00000486694.1:n.19-6296C>A | |
ENST00000630821.1:n.236-6296C>A | ||
NM_006516.2:c.19-6296C>A | NP_006507.2:n.19-6296C>A | |
NM_006516.3:c.19-6296C>A | NP_006507.2:n.19-6296C>A | |
NM_006516.4:c.19-6296C>A MANE Select | NP_006507.2:n.19-6296C>A |