Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131037C>T , CM000684.2:g.42131037C>T | GRCh38 |
| NC_000022.10:g.42527039C>T , CM000684.1:g.42527039C>T | GRCh37 |
| NC_000022.9:g.40856983C>T | NCBI36 |
| NG_008376.3:g.3955G>A | |
| NG_008376.4:g.4774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-246G>A | XP_011528268.1:n.-246G>A | |
| XM_011529967.1:c.-246G>A | XP_011528269.1:n.-246G>A | |
| XM_011529968.1:c.-246G>A | XP_011528270.1:n.-246G>A | |
| XM_011529969.1:c.37+260G>A | XP_011528271.1:n.37+260G>A | |
| XM_011529970.1:c.-246G>A | XP_011528272.1:n.-246G>A | |
| XM_011529971.1:c.37+260G>A | XP_011528273.1:n.37+260G>A | |
| XM_011529972.1:c.-246G>A | XP_011528274.1:n.-246G>A | |
| XR_430455.2:n.328+349C>T | ||
| XR_002958749.1:n.275+349C>T |