Linked Data
ClinVar Variation Id:
341258
ClinVar RCV Id:
RCV000358722
dbSNP Id:
rs368853644
ExAC:
22:32500832 G / A
gnomAD v2:
22-32500832-G-A
gnomAD v3:
22-32104845-G-A
gnomAD v4:
22-32104845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104845G>A , CM000684.2:g.32104845G>A | GRCh38 |
| NC_000022.10:g.32500832G>A , CM000684.1:g.32500832G>A | GRCh37 |
| NC_000022.9:g.30830832G>A | NCBI36 |
| NG_017045.1:g.66814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1725G>A MANE Select | ENSP00000266088.4:p.Ala575= | |
| ENST00000266088.8:c.1725G>A | ENSP00000266088.4:p.Ala575= | |
| ENST00000543737.2:c.1344G>A | ENSP00000444898.1:p.Ala448= | |
| NM_000343.3:c.1725G>A | NP_000334.1:p.Ala575= | |
| NM_001256314.1:c.1344G>A | NP_001243243.1:p.Ala448= | |
| XR_938173.1:n.591+1993C>T | ||
| XR_938174.1:n.486+15010C>T | ||
| NM_000343.4:c.1725G>A MANE Select | NP_000334.1:p.Ala575= | |
| NM_001256314.2:c.1344G>A | NP_001243243.1:p.Ala448= |