Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46310080A>G , CM000673.2:g.46310080A>G | GRCh38 |
| NC_000011.9:g.46331631A>G , CM000673.1:g.46331631A>G | GRCh37 |
| NC_000011.8:g.46288207A>G | NCBI36 |
| NG_033264.1:g.37443A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.595+13A>G MANE Select | NP_443086.1:n.595+13A>G |
| ENST00000621158.5:c.595+13A>G MANE Select | ENSP00000481956.1:n.595+13A>G |
| NM_052854.3:c.595+13A>G | NP_443086.1:n.595+13A>G |
| ENST00000621158.4:c.595+13A>G | ENSP00000481956.1:n.595+13A>G |
| XM_006718380.2:c.595+13A>G | XP_006718443.1:n.595+13A>G |
| XM_006718380.3:c.595+13A>G | XP_006718443.1:n.595+13A>G |