Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46300109G>A , CM000673.2:g.46300109G>A | GRCh38 |
| NC_000011.9:g.46321660G>A , CM000673.1:g.46321660G>A | GRCh37 |
| NC_000011.8:g.46278236G>A | NCBI36 |
| NG_033264.1:g.27472G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.277G>A MANE Select | NP_443086.1:p.Asp93Asn |
| ENST00000621158.5:c.277G>A MANE Select | ENSP00000481956.1:p.Asp93Asn |
| NM_052854.3:c.277G>A | NP_443086.1:p.Asp93Asn |
| ENST00000534787.1:c.139G>A | ENSP00000431677.1:p.Asp47Asn |
| ENST00000621158.4:c.277G>A | ENSP00000481956.1:p.Asp93Asn |
| XM_006718380.2:c.277G>A | XP_006718443.1:p.Asp93Asn |
| XM_006718380.3:c.277G>A | XP_006718443.1:p.Asp93Asn |