Linked Data
dbSNP Id:
rs1203292948
gnomAD v2:
22-42527085-G-A
gnomAD v3:
22-42131083-G-A
gnomAD v4:
22-42131083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131083G>A , CM000684.2:g.42131083G>A | GRCh38 |
| NC_000022.10:g.42527085G>A , CM000684.1:g.42527085G>A | GRCh37 |
| NC_000022.9:g.40857029G>A | NCBI36 |
| NG_008376.3:g.3909C>T | |
| NG_008376.4:g.4728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-292C>T | XP_011528268.1:n.-292C>T | |
| XM_011529967.1:c.-292C>T | XP_011528269.1:n.-292C>T | |
| XM_011529968.1:c.-292C>T | XP_011528270.1:n.-292C>T | |
| XM_011529969.1:c.37+214C>T | XP_011528271.1:n.37+214C>T | |
| XM_011529970.1:c.-292C>T | XP_011528272.1:n.-292C>T | |
| XM_011529971.1:c.37+214C>T | XP_011528273.1:n.37+214C>T | |
| XM_011529972.1:c.-292C>T | XP_011528274.1:n.-292C>T | |
| XR_430455.2:n.328+395G>A | ||
| XR_002958749.1:n.275+395G>A |