Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357487G>A , CM000668.2:g.31357487G>A | GRCh38 |
| NC_000006.11:g.31325264G>A , CM000668.1:g.31325264G>A | GRCh37 |
| NC_000006.10:g.31433243G>A | NCBI36 |
| NG_023187.1:g.4726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1338+127C>T | ||
| ENST00000481849.6:n.1338+127C>T | ||
| ENST00000497377.6:n.1338+127C>T | ||
| ENST00000696559.1:c.-136+127C>T | ENSP00000512717.1:n.-136+127C>T | |
| ENST00000696560.1:c.-136+127C>T | ENSP00000512718.1:n.-136+127C>T | |
| ENST00000696561.1:c.-136+127C>T | ENSP00000512719.1:n.-136+127C>T | |
| ENST00000696562.1:c.-135-194C>T | ENSP00000512720.1:n.-135-194C>T | |
| ENST00000603274.1:n.841G>A | ||
| XR_926692.1:n.164+127C>T |