Linked Data
ClinVar Variation Id:
828905
ClinVar RCV Id:
RCV001028819
dbSNP Id:
rs28371737
gnomAD v2:
22-42522464-G-A
gnomAD v3:
22-42126462-G-A
gnomAD v4:
22-42126462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126462G>A , CM000684.2:g.42126462G>A | GRCh38 |
| NC_000022.10:g.42522464G>A , CM000684.1:g.42522464G>A | GRCh37 |
| NC_000022.9:g.40852408G>A | NCBI36 |
| NG_008376.3:g.8530C>T | |
| NG_008376.4:g.9349C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529966.1:c.1452+154C>T | XP_011528268.1:n.1452+154C>T | |
| XM_011529967.1:c.1452+154C>T | XP_011528269.1:n.1452+154C>T | |
| XM_011529968.1:c.1452+154C>T | XP_011528270.1:n.1452+154C>T | |
| XM_011529969.1:c.1308+154C>T | XP_011528271.1:n.1308+154C>T | |
| XM_011529970.1:c.1299+154C>T | XP_011528272.1:n.1299+154C>T |