Linked Data
dbSNP Id:
rs1280362044
gnomAD v2:
22-42527068-G-A
gnomAD v3:
22-42131066-G-A
gnomAD v4:
22-42131066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131066G>A , CM000684.2:g.42131066G>A | GRCh38 |
| NC_000022.10:g.42527068G>A , CM000684.1:g.42527068G>A | GRCh37 |
| NC_000022.9:g.40857012G>A | NCBI36 |
| NG_008376.3:g.3926C>T | |
| NG_008376.4:g.4745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-275C>T | XP_011528268.1:n.-275C>T | |
| XM_011529967.1:c.-275C>T | XP_011528269.1:n.-275C>T | |
| XM_011529968.1:c.-275C>T | XP_011528270.1:n.-275C>T | |
| XM_011529969.1:c.37+231C>T | XP_011528271.1:n.37+231C>T | |
| XM_011529970.1:c.-275C>T | XP_011528272.1:n.-275C>T | |
| XM_011529971.1:c.37+231C>T | XP_011528273.1:n.37+231C>T | |
| XM_011529972.1:c.-275C>T | XP_011528274.1:n.-275C>T | |
| XR_430455.2:n.328+378G>A | ||
| XR_002958749.1:n.275+378G>A |