Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70635895G>A , CM000666.2:g.70635895G>A | GRCh38 |
| NC_000004.11:g.71501612G>A , CM000666.1:g.71501612G>A | GRCh37 |
| NG_013024.1:g.12152G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031889.3:c.534+1G>A MANE Select | NP_114095.2:n.534+1G>A |
| ENST00000396073.4:c.534+1G>A MANE Select | ENSP00000379383.4:n.534+1G>A |
| NM_031889.2:c.534+1G>A | NP_114095.2:n.534+1G>A |
| ENST00000396073.3:c.534+1G>A | ENSP00000379383.3:n.534+1G>A |
| XM_006714056.2:c.534+1G>A | XP_006714119.1:n.534+1G>A |
| XM_006714056.4:c.534+1G>A | XP_006714119.1:n.534+1G>A |