Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83549142T>C , CM000671.2:g.83549142T>C | GRCh38 |
| NC_000009.11:g.86164057T>C , CM000671.1:g.86164057T>C | GRCh37 |
| NC_000009.10:g.85353877T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017014588.1:c.24+11028A>G | XP_016870077.1:n.24+11028A>G | |
| XM_024447487.1:c.-142+25768A>G | XP_024303255.1:n.-142+25768A>G | |
| XM_024447489.1:c.-142+25768A>G | XP_024303257.1:n.-142+25768A>G |