Linked Data
ClinVar Variation Id:
341261
ClinVar RCV Id:
RCV000371813
dbSNP Id:
rs200228396
ExAC:
22:32506014 G / A
gnomAD v2:
22-32506014-G-A
gnomAD v3:
22-32110027-G-A
gnomAD v4:
22-32110027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32110027G>A , CM000684.2:g.32110027G>A | GRCh38 |
| NC_000022.10:g.32506014G>A , CM000684.1:g.32506014G>A | GRCh37 |
| NC_000022.9:g.30836014G>A | NCBI36 |
| NG_017045.1:g.71996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1809G>A MANE Select | ENSP00000266088.4:p.Arg603= | |
| ENST00000266088.8:c.1809G>A | ENSP00000266088.4:p.Arg603= | |
| ENST00000543737.2:c.1428G>A | ENSP00000444898.1:p.Arg476= | |
| NM_000343.3:c.1809G>A | NP_000334.1:p.Arg603= | |
| NM_001256314.1:c.1428G>A | NP_001243243.1:p.Arg476= | |
| XR_938172.1:n.487-3085C>T | ||
| XR_938173.1:n.487-3085C>T | ||
| XR_938174.1:n.486+9828C>T | ||
| XR_938172.2:n.491-3085C>T | ||
| NM_000343.4:c.1809G>A MANE Select | NP_000334.1:p.Arg603= | |
| NM_001256314.2:c.1428G>A | NP_001243243.1:p.Arg476= |