Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83549145C>T , CM000671.2:g.83549145C>T | GRCh38 |
| NC_000009.11:g.86164060C>T , CM000671.1:g.86164060C>T | GRCh37 |
| NC_000009.10:g.85353880C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017014588.1:c.24+11025G>A | XP_016870077.1:n.24+11025G>A | |
| XM_024447487.1:c.-142+25765G>A | XP_024303255.1:n.-142+25765G>A | |
| XM_024447489.1:c.-142+25765G>A | XP_024303257.1:n.-142+25765G>A |