Linked Data
ClinVar Variation Id:
1146842
ClinVar RCV Id:
RCV001486199
dbSNP Id:
rs1230699102
gnomAD v4:
11-22625049-G-T
MyVariant Identifiers:
chr11:g.22646595G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625049G>T , CM000673.2:g.22625049G>T | GRCh38 |
| NC_000011.9:g.22646595G>T , CM000673.1:g.22646595G>T | GRCh37 |
| NC_000011.8:g.22603171G>T | NCBI36 |
| NG_007425.1:g.5793C>A , LRG_527:g.5793C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.762C>A MANE Select | ENSP00000330875.3:p.Ala254= | |
| ENST00000327470.4:c.762C>A | ENSP00000330875.3:p.Ala254= | |
| NM_022725.3:c.762C>A , LRG_527t1:c.762C>A | NP_073562.1:p.Ala254= | |
| NM_022725.4:c.762C>A MANE Select | NP_073562.1:p.Ala254= |