Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704386G>A , CM000669.2:g.107704386G>A | GRCh38 |
| NC_000007.13:g.107344831G>A , CM000669.1:g.107344831G>A | GRCh37 |
| NC_000007.12:g.107132067G>A | NCBI36 |
| NG_008489.1:g.48752G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.2089+1G>A MANE Select | NP_000432.1:n.2089+1G>A |
| ENST00000644269.2:c.2089+1G>A MANE Select | ENSP00000494017.1:n.2089+1G>A |
| NM_000441.1:c.2089+1G>A | NP_000432.1:n.2089+1G>A |
| ENST00000265715.7:c.2089+1G>A | ENSP00000265715.3:n.2089+1G>A |
| ENST00000492030.2:n.376+1G>A | |
| ENST00000644846.1:c.745+2329G>A | |
| XM_005250425.1:c.2089+1G>A | XP_005250482.1:n.2089+1G>A |
| XM_005250425.2:c.2089+1G>A | XP_005250482.1:n.2089+1G>A |
| XM_017012318.1:c.2011+1G>A | XP_016867807.1:n.2011+1G>A |