Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26489489A>C , CM000666.2:g.26489489A>C | GRCh38 |
| NC_000004.11:g.26491111A>C , CM000666.1:g.26491111A>C | GRCh37 |
| NC_000004.10:g.26100209A>C | NCBI36 |
| NG_012053.1:g.5932T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000730.3:c.113-5T>G MANE Select | NP_000721.1:n.113-5T>G |
| ENST00000295589.4:c.113-5T>G MANE Select | ENSP00000295589.3:n.113-5T>G |
| NM_000730.2:c.113-5T>G | NP_000721.1:n.113-5T>G |
| ENST00000295589.3:c.113-5T>G | ENSP00000295589.3:n.113-5T>G |