Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56500715A>C , CM000663.2:g.56500715A>C | GRCh38 |
| NC_000001.10:g.56966387A>C , CM000663.1:g.56966387A>C | GRCh37 |
| NC_000001.9:g.56738975A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371250.4:c.811-4039T>G MANE Select | ENSP00000360296.3:n.811-4039T>G | |
| ENST00000641109.1:c.220-4039T>G | ENSP00000493138.1:n.220-4039T>G | |
| ENST00000641494.1:c.65-4039T>G | ||
| ENST00000642129.1:c.455-4039T>G | ||
| ENST00000371250.3:c.811-4039T>G | ENSP00000360296.3:n.811-4039T>G | |
| ENST00000459962.1:n.1797-4039T>G | ||
| ENST00000472957.1:n.296-4039T>G | ||
| NM_003713.4:c.811-4039T>G | NP_003704.3:n.811-4039T>G | |
| NM_003713.5:c.811-4039T>G MANE Select | NP_003704.3:n.811-4039T>G |