Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178834G>A , CM000673.2:g.89178834G>A | GRCh38 |
| NC_000011.9:g.88912002G>A , CM000673.1:g.88912002G>A | GRCh37 |
| NC_000011.8:g.88551650G>A | NCBI36 |
| NG_008748.1:g.5963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.819+62G>A MANE Select | ENSP00000263321.4:n.819+62G>A | |
| ENST00000263321.5:c.819+62G>A | ENSP00000263321.4:n.819+62G>A | |
| ENST00000526139.1:n.880+62G>A | ||
| NM_000372.4:c.819+62G>A | NP_000363.1:n.819+62G>A | |
| XM_011542970.1:c.819+62G>A | XP_011541272.1:n.819+62G>A | |
| XM_011542970.2:c.819+62G>A | XP_011541272.1:n.819+62G>A | |
| XR_001748321.1:n.2718-65301C>T | ||
| XR_001748322.1:n.2733-65301C>T | ||
| NM_000372.5:c.819+62G>A MANE Select | NP_000363.1:n.819+62G>A |