Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131122A>C , CM000684.2:g.42131122A>C | GRCh38 |
| NC_000022.10:g.42527124A>C , CM000684.1:g.42527124A>C | GRCh37 |
| NC_000022.9:g.40857068A>C | NCBI36 |
| NG_008376.3:g.3870T>G | |
| NG_008376.4:g.4689T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529966.1:c.-331T>G | XP_011528268.1:n.-331T>G |
| XM_011529967.1:c.-331T>G | XP_011528269.1:n.-331T>G |
| XM_011529968.1:c.-331T>G | XP_011528270.1:n.-331T>G |
| XM_011529969.1:c.37+175T>G | XP_011528271.1:n.37+175T>G |
| XM_011529970.1:c.-331T>G | XP_011528272.1:n.-331T>G |
| XM_011529971.1:c.37+175T>G | XP_011528273.1:n.37+175T>G |
| XM_011529972.1:c.-331T>G | XP_011528274.1:n.-331T>G |
| XR_002958749.1:n.275+434A>C | |
| XR_430455.2:n.328+434A>C |