Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11964624G>A , CM000663.2:g.11964624G>A | GRCh38 |
| NC_000001.10:g.12024681G>A , CM000663.1:g.12024681G>A | GRCh37 |
| NC_000001.9:g.11947268G>A | NCBI36 |
| NG_008159.1:g.34936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1329-20G>A MANE Select | ENSP00000196061.4:n.1329-20G>A | |
| ENST00000196061.4:c.1329-20G>A | ENSP00000196061.4:n.1329-20G>A | |
| NM_000302.3:c.1329-20G>A | NP_000293.2:n.1329-20G>A | |
| NM_001316320.1:c.1470-20G>A | NP_001303249.1:n.1470-20G>A | |
| XM_011541594.1:c.1410-20G>A | XP_011539896.1:n.1410-20G>A | |
| XM_024447707.1:c.663-20G>A | XP_024303475.1:n.663-20G>A | |
| NM_000302.4:c.1329-20G>A MANE Select | NP_000293.2:n.1329-20G>A | |
| NM_001316320.2:c.1470-20G>A | NP_001303249.1:n.1470-20G>A |