Linked Data
ClinVar Variation Id:
1701151
ClinVar RCV Id:
RCV002276362
dbSNP Id:
rs1381357974
gnomAD v2:
10-124221260-C-T
gnomAD v3:
10-122461744-C-T
gnomAD v4:
10-122461744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461744C>T , CM000672.2:g.122461744C>T | GRCh38 |
| NC_000010.10:g.124221260C>T , CM000672.1:g.124221260C>T | GRCh37 |
| NC_000010.9:g.124211250C>T | NCBI36 |
| NG_011554.1:g.5220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.92C>T MANE Select | ENSP00000357980.3:p.Ala31Val | |
| ENST00000648167.1:c.154+3035C>T | ENSP00000498033.1:n.154+3035C>T | |
| ENST00000368984.7:c.92C>T | ENSP00000357980.3:p.Ala31Val | |
| NM_002775.4:c.92C>T | NP_002766.1:p.Ala31Val | |
| NM_002775.5:c.92C>T MANE Select | NP_002766.1:p.Ala31Val |