Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357340G>T , CM000668.2:g.31357340G>T | GRCh38 |
| NC_000006.11:g.31325117G>T , CM000668.1:g.31325117G>T | GRCh37 |
| NC_000006.10:g.31433096G>T | NCBI36 |
| NG_023187.1:g.4873C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1339-47C>A | ||
| ENST00000481849.6:n.1339-47C>A | ||
| ENST00000497377.6:n.1339-47C>A | ||
| ENST00000696559.1:c.-135-47C>A | ENSP00000512717.1:n.-135-47C>A | |
| ENST00000696560.1:c.-135-47C>A | ENSP00000512718.1:n.-135-47C>A | |
| ENST00000696561.1:c.-135-47C>A | ENSP00000512719.1:n.-135-47C>A | |
| ENST00000696562.1:c.-135-47C>A | ENSP00000512720.1:n.-135-47C>A | |
| ENST00000603274.1:n.694G>T | ||
| XR_926692.1:n.165-47C>A |