Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74520988A>G , CM000685.2:g.74520988A>G | GRCh38 |
| NC_000023.10:g.73740823A>G , CM000685.1:g.73740823A>G | GRCh37 |
| NC_000023.9:g.73657548A>G | NCBI36 |
| NG_011641.1:g.104739A>G | |
| NG_011641.2:g.104739A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.431-2A>G MANE Select | NP_006508.2:n.431-2A>G |
| ENST00000587091.6:c.431-2A>G MANE Select | ENSP00000465734.1:n.431-2A>G |
| NM_006517.4:c.431-2A>G | NP_006508.2:n.431-2A>G |
| ENST00000587091.5:c.431-2A>G | ENSP00000465734.1:n.431-2A>G |
| ENST00000636771.1:c.340-2A>G | |
| XM_005262294.1:c.431-2A>G | XP_005262351.1:n.431-2A>G |
| XM_011531015.1:c.431-2A>G | XP_011529317.1:n.431-2A>G |