Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74753271G>A , CM000677.2:g.74753271G>A | GRCh38 |
| NC_000015.9:g.75045612G>A , CM000677.1:g.75045612G>A | GRCh37 |
| NC_000015.8:g.72832665G>A | NCBI36 |
| NG_008431.1:g.35730G>A | |
| NG_008431.2:g.35730G>A | |
| NG_061543.1:g.9427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1253+1G>A MANE Select | ENSP00000342007.4:n.1253+1G>A | |
| ENST00000343932.4:c.1253+1G>A | ENSP00000342007.4:n.1253+1G>A | |
| NM_000761.4:c.1253+1G>A | NP_000752.2:n.1253+1G>A | |
| NM_000761.5:c.1253+1G>A MANE Select | NP_000752.2:n.1253+1G>A |