Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74000432A>G , CM000673.2:g.74000432A>G | GRCh38 |
| NC_000011.9:g.73711477A>G , CM000673.1:g.73711477A>G | GRCh37 |
| NC_000011.8:g.73389125A>G | NCBI36 |
| NG_011515.1:g.13806T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003356.4:c.*980T>C MANE Select | NP_003347.1:n.*980T>C |
| ENST00000314032.9:c.*980T>C MANE Select | ENSP00000323740.4:n.*980T>C |
| NM_003356.3:c.*980T>C | NP_003347.1:n.*980T>C |
| ENST00000314032.8:c.*980T>C | ENSP00000323740.4:n.*980T>C |
| XR_950298.1:n.1768+4398A>G |