Linked Data
ClinVar Variation Id:
2088173
ClinVar RCV Id:
RCV003009931
dbSNP Id:
rs752979565
ExAC:
11:22646734 G / T
gnomAD v2:
11-22646734-G-T
gnomAD v4:
11-22625188-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625188G>T , CM000673.2:g.22625188G>T | GRCh38 |
| NC_000011.9:g.22646734G>T , CM000673.1:g.22646734G>T | GRCh37 |
| NC_000011.8:g.22603310G>T | NCBI36 |
| NG_007425.1:g.5654C>A , LRG_527:g.5654C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.623C>A MANE Select | ENSP00000330875.3:p.Ala208Glu | |
| ENST00000327470.4:c.623C>A | ENSP00000330875.3:p.Ala208Glu | |
| NM_022725.3:c.623C>A , LRG_527t1:c.623C>A | NP_073562.1:p.Ala208Glu | |
| NM_022725.4:c.623C>A MANE Select | NP_073562.1:p.Ala208Glu |