Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4949328G>T , CM000679.2:g.4949328G>T | GRCh38 |
| NC_000017.10:g.4852623G>T , CM000679.1:g.4852623G>T | GRCh37 |
| NC_000017.9:g.4793368G>T | NCBI36 |
| NG_012063.2:g.8238G>T | |
| NG_032945.1:g.4759C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000519266.5:c.-3+981G>T | ENSP00000467270.1:n.-3+981G>T |
| ENST00000520221.5:c.-3+955G>T | ENSP00000467444.1:n.-3+955G>T |
| ENST00000522798.5:c.-3+35G>T | ENSP00000428502.1:n.-3+35G>T |
| XM_011523729.1:c.-3+35G>T | XP_011522031.1:n.-3+35G>T |