Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353117G>T , CM000678.2:g.20353117G>T | GRCh38 |
| NC_000016.9:g.20364439G>T , CM000678.1:g.20364439G>T | GRCh37 |
| NC_000016.8:g.20271940G>T | NCBI36 |
| NG_008151.1:g.4599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570689.5:c.-39-2341C>A | ENSP00000460548.1:n.-39-2341C>A | |
| XM_011545938.1:c.-39-2341C>A | XP_011544240.1:n.-39-2341C>A |