Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81510835T>C , CM000668.2:g.81510835T>C | GRCh38 |
| NC_000006.11:g.82220552T>C , CM000668.1:g.82220552T>C | GRCh37 |
| NC_000006.10:g.82277271T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412306.1:c.224-15722A>G | ||
| XR_241866.2:n.176+2894A>G | ||
| XR_001744218.1:n.1131+2894A>G | ||
| XR_001744219.1:n.690+2894A>G | ||
| XR_001744220.1:n.787+2894A>G | ||
| XR_001744221.1:n.929+2894A>G | ||
| XR_001744222.1:n.141+2894A>G | ||
| XR_241866.3:n.1131+2894A>G |