Linked Data
ClinVar Variation Id:
2513488
ClinVar RCV Id:
RCV003240610
dbSNP Id:
rs747878124
gnomAD v2:
11-299433-C-T
gnomAD v3:
11-299433-C-T
gnomAD v4:
11-299433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299433C>T , CM000673.2:g.299433C>T | GRCh38 |
| NC_000011.9:g.299433C>T , CM000673.1:g.299433C>T | GRCh37 |
| NC_000011.8:g.289433C>T | NCBI36 |
| NG_032892.1:g.5094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.58G>A MANE Select | ENSP00000372059.2:p.Ala20Thr | |
| NM_001025295.2:c.58G>A | NP_001020466.1:p.Ala20Thr | |
| NM_001025295.3:c.58G>A MANE Select | NP_001020466.1:p.Ala20Thr |