Linked Data
ClinVar Variation Id:
1918993
ClinVar RCV Id:
RCV002617402
dbSNP Id:
rs763485576
ExAC:
11:299409 C / T
gnomAD v2:
11-299409-C-T
gnomAD v3:
11-299409-C-T
gnomAD v4:
11-299409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299409C>T , CM000673.2:g.299409C>T | GRCh38 |
| NC_000011.9:g.299409C>T , CM000673.1:g.299409C>T | GRCh37 |
| NC_000011.8:g.289409C>T | NCBI36 |
| NG_032892.1:g.5118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.82G>A MANE Select | ENSP00000372059.2:p.Ala28Thr | |
| NM_001025295.2:c.82G>A | NP_001020466.1:p.Ala28Thr | |
| NM_001025295.3:c.82G>A MANE Select | NP_001020466.1:p.Ala28Thr |