Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353266A>C , CM000678.2:g.20353266A>C | GRCh38 |
| NC_000016.9:g.20364588A>C , CM000678.1:g.20364588A>C | GRCh37 |
| NC_000016.8:g.20272089A>C | NCBI36 |
| NG_008151.1:g.4450T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000570689.5:c.-39-2490T>G | ENSP00000460548.1:n.-39-2490T>G |
| XM_011545938.1:c.-39-2490T>G | XP_011544240.1:n.-39-2490T>G |