Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7890075C>T , CM000682.2:g.7890075C>T | GRCh38 |
| NC_000020.10:g.7870722C>T , CM000682.1:g.7870722C>T | GRCh37 |
| NC_000020.9:g.7818722C>T | NCBI36 |
| NG_046733.1:g.55372G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017545.3:c.814-4211G>A MANE Select | NP_060015.1:n.814-4211G>A |
| ENST00000378789.4:c.814-4211G>A MANE Select | ENSP00000368066.3:n.814-4211G>A |
| NM_017545.2:c.814-4211G>A | NP_060015.1:n.814-4211G>A |
| ENST00000378789.3:c.814-4211G>A | ENSP00000368066.3:n.814-4211G>A |