Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33122647G>C , CM000671.2:g.33122647G>C | GRCh38 |
| NC_000009.11:g.33122645G>C , CM000671.1:g.33122645G>C | GRCh37 |
| NC_000009.10:g.33112645G>C | NCBI36 |
| NG_008919.1:g.49712C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001497.3:c.649-2041C>G VV | NP_001488.2:p.= | |
| XM_005251440.3:c.649-2041C>G | XP_005251497.1:p.= | |
| XM_005251440.5:c.649-2041C>G | XP_005251497.1:p.= | |
| ENST00000379731.4:c.649-2041C>G | ENSP00000369055.4:p.= | |
| ENST00000535206.5:c.648+12542C>G | ENSP00000440341.1:p.= |