Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46300084G>A , CM000673.2:g.46300084G>A | GRCh38 |
| NC_000011.9:g.46321635G>A , CM000673.1:g.46321635G>A | GRCh37 |
| NC_000011.8:g.46278211G>A | NCBI36 |
| NG_033264.1:g.27447G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.252G>A MANE Select | NP_443086.1:p.Ala84= |
| ENST00000621158.5:c.252G>A MANE Select | ENSP00000481956.1:p.Ala84= |
| NM_052854.3:c.252G>A | NP_443086.1:p.Ala84= |
| ENST00000534787.1:c.114G>A | ENSP00000431677.1:p.Ala38= |
| ENST00000621158.4:c.252G>A | ENSP00000481956.1:p.Ala84= |
| XM_006718380.2:c.252G>A | XP_006718443.1:p.Ala84= |
| XM_006718380.3:c.252G>A | XP_006718443.1:p.Ala84= |