Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818990T>C , CM000671.2:g.129818990T>C | GRCh38 |
| NC_000009.11:g.132581269T>C , CM000671.1:g.132581269T>C | GRCh37 |
| NC_000009.10:g.131621090T>C | NCBI36 |
| NG_008049.1:g.10173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445-70A>G MANE Select | ENSP00000345719.4:n.445-70A>G | |
| ENST00000651202.1:c.541-70A>G | ENSP00000498222.1:n.541-70A>G | |
| ENST00000351698.4:c.445-70A>G | ENSP00000345719.4:n.445-70A>G | |
| ENST00000473604.2:n.555-70A>G | ||
| NM_000113.2:c.445-70A>G | NP_000104.1:n.445-70A>G | |
| XR_929731.1:n.605-70A>G | ||
| XR_929731.3:n.473-70A>G | ||
| NM_000113.3:c.445-70A>G MANE Select | NP_000104.1:n.445-70A>G |