Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9741336A>C , CM000685.2:g.9741336A>C | GRCh38 |
| NC_000023.10:g.9709376A>C , CM000685.1:g.9709376A>C | GRCh37 |
| NC_000023.9:g.9669376A>C | NCBI36 |
| NG_009074.1:g.29542T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.885+2T>G MANE Select | ENSP00000417161.1:n.885+2T>G | |
| ENST00000447366.5:c.633+2T>G | ENSP00000390546.2:n.633+2T>G | |
| ENST00000467482.5:c.885+2T>G | ENSP00000417161.1:n.885+2T>G | |
| NM_000273.2:c.885+2T>G | NP_000264.2:n.885+2T>G | |
| XM_005274541.2:c.885+2T>G | XP_005274598.1:n.885+2T>G | |
| XM_005274541.3:c.885+2T>G | XP_005274598.1:n.885+2T>G | |
| XM_024452387.1:c.633+2T>G | XP_024308155.1:n.633+2T>G | |
| XM_024452388.1:c.633+2T>G | XP_024308156.1:n.633+2T>G | |
| NM_000273.3:c.885+2T>G MANE Select | NP_000264.2:n.885+2T>G |