Linked Data
ClinVar Variation Id:
341243
ClinVar RCV Id:
RCV000322547
dbSNP Id:
rs200849778
ExAC:
22:32480574 G / A
gnomAD v2:
22-32480574-G-A
gnomAD v3:
22-32084587-G-A
gnomAD v4:
22-32084587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32084587G>A , CM000684.2:g.32084587G>A | GRCh38 |
| NC_000022.10:g.32480574G>A , CM000684.1:g.32480574G>A | GRCh37 |
| NC_000022.9:g.30810574G>A | NCBI36 |
| NG_017045.1:g.46556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.813G>A MANE Select | ENSP00000266088.4:p.Thr271= | |
| ENST00000266088.8:c.813G>A | ENSP00000266088.4:p.Thr271= | |
| ENST00000486394.1:n.253G>A | ||
| ENST00000543737.2:c.432G>A | ENSP00000444898.1:p.Thr144= | |
| NM_000343.3:c.813G>A | NP_000334.1:p.Thr271= | |
| NM_001256314.1:c.432G>A | NP_001243243.1:p.Thr144= | |
| XM_011530331.1:c.813G>A | XP_011528633.1:p.Thr271= | |
| XR_938173.1:n.592-15784C>T | ||
| XR_938174.1:n.487-15784C>T | ||
| NM_000343.4:c.813G>A MANE Select | NP_000334.1:p.Thr271= | |
| NM_001256314.2:c.432G>A | NP_001243243.1:p.Thr144= |