Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47324836T>G , CM000672.2:g.47324836T>G | GRCh38 |
| NC_000010.10:g.48414526A>C , CM000672.1:g.48414526A>C | GRCh37 |
| NC_000010.9:g.48034532A>C | NCBI36 |
| NG_033916.1:g.7347T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016204.4:c.347-5T>G MANE Select | NP_057288.1:n.347-5T>G |
| ENST00000581492.3:c.347-5T>G MANE Select | ENSP00000463051.1:n.347-5T>G |
| NM_016204.2:c.347-5T>G | NP_057288.1:n.347-5T>G |
| NM_016204.3:c.347-5T>G | NP_057288.1:n.347-5T>G |
| ENST00000581492.2:c.347-5T>G | ENSP00000463051.1:n.347-5T>G |
| XM_006717761.2:c.347-5T>G | XP_006717824.1:n.347-5T>G |