Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31359285C>T , CM000668.2:g.31359285C>T | GRCh38 |
| NC_000006.11:g.31327062C>T , CM000668.1:g.31327062C>T | GRCh37 |
| NC_000006.10:g.31435041C>T | NCBI36 |
| NG_023187.1:g.2928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1271-1604G>A | ||
| ENST00000481849.6:n.1271-1604G>A | ||
| ENST00000497377.6:n.1271-1604G>A | ||
| ENST00000696559.1:c.-203-1604G>A | ENSP00000512717.1:n.-203-1604G>A | |
| ENST00000696560.1:c.-203-1604G>A | ENSP00000512718.1:n.-203-1604G>A | |
| ENST00000696561.1:c.-203-1604G>A | ENSP00000512719.1:n.-203-1604G>A | |
| ENST00000696562.1:c.-135-1992G>A | ENSP00000512720.1:n.-135-1992G>A |