Linked Data
dbSNP Id:
rs912915978
gnomAD v2:
22-42527002-G-A
gnomAD v3:
22-42131000-G-A
gnomAD v4:
22-42131000-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131000G>A , CM000684.2:g.42131000G>A | GRCh38 |
| NC_000022.10:g.42527002G>A , CM000684.1:g.42527002G>A | GRCh37 |
| NC_000022.9:g.40856946G>A | NCBI36 |
| NG_008376.3:g.3992C>T | |
| NG_008376.4:g.4811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-209C>T | XP_011528268.1:n.-209C>T | |
| XM_011529967.1:c.-209C>T | XP_011528269.1:n.-209C>T | |
| XM_011529968.1:c.-209C>T | XP_011528270.1:n.-209C>T | |
| XM_011529969.1:c.37+297C>T | XP_011528271.1:n.37+297C>T | |
| XM_011529970.1:c.-209C>T | XP_011528272.1:n.-209C>T | |
| XM_011529971.1:c.37+297C>T | XP_011528273.1:n.37+297C>T | |
| XM_011529972.1:c.-209C>T | XP_011528274.1:n.-209C>T | |
| XR_430455.2:n.328+312G>A | ||
| XR_002958749.1:n.275+312G>A |