Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357494A>C , CM000668.2:g.31357494A>C | GRCh38 |
| NC_000006.11:g.31325271A>C , CM000668.1:g.31325271A>C | GRCh37 |
| NC_000006.10:g.31433250A>C | NCBI36 |
| NG_023187.1:g.4719T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1338+120T>G | ||
| ENST00000481849.6:n.1338+120T>G | ||
| ENST00000497377.6:n.1338+120T>G | ||
| ENST00000696559.1:c.-136+120T>G | ENSP00000512717.1:n.-136+120T>G | |
| ENST00000696560.1:c.-136+120T>G | ENSP00000512718.1:n.-136+120T>G | |
| ENST00000696561.1:c.-136+120T>G | ENSP00000512719.1:n.-136+120T>G | |
| ENST00000696562.1:c.-135-201T>G | ENSP00000512720.1:n.-135-201T>G | |
| ENST00000603274.1:n.848A>C | ||
| XR_926692.1:n.164+120T>G |