Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126365T>C , CM000684.2:g.42126365T>C | GRCh38 |
| NC_000022.10:g.42522367T>C , CM000684.1:g.42522367T>C | GRCh37 |
| NC_000022.9:g.40852311T>C | NCBI36 |
| NG_008376.3:g.8627A>G | |
| NG_008376.4:g.9446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1452+251A>G | XP_011528268.1:n.1452+251A>G | |
| XM_011529967.1:c.1452+251A>G | XP_011528269.1:n.1452+251A>G | |
| XM_011529968.1:c.1452+251A>G | XP_011528270.1:n.1452+251A>G | |
| XM_011529969.1:c.1308+251A>G | XP_011528271.1:n.1308+251A>G | |
| XM_011529970.1:c.1299+251A>G | XP_011528272.1:n.1299+251A>G |