Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26489495A>T , CM000666.2:g.26489495A>T | GRCh38 |
| NC_000004.11:g.26491117A>T , CM000666.1:g.26491117A>T | GRCh37 |
| NC_000004.10:g.26100215A>T | NCBI36 |
| NG_012053.1:g.5926T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000730.3:c.113-11T>A MANE Select | NP_000721.1:n.113-11T>A |
| ENST00000295589.4:c.113-11T>A MANE Select | ENSP00000295589.3:n.113-11T>A |
| NM_000730.2:c.113-11T>A | NP_000721.1:n.113-11T>A |
| ENST00000295589.3:c.113-11T>A | ENSP00000295589.3:n.113-11T>A |