Linked Data
ClinVar Variation Id:
2684150
ClinVar RCV Id:
RCV003482646
dbSNP Id:
rs1331849764
gnomAD v2:
10-124221176-T-A
gnomAD v3:
10-122461660-T-A
gnomAD v4:
10-122461660-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461660T>A , CM000672.2:g.122461660T>A | GRCh38 |
| NC_000010.10:g.124221176T>A , CM000672.1:g.124221176T>A | GRCh37 |
| NC_000010.9:g.124211166T>A | NCBI36 |
| NG_011554.1:g.5136T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.8T>A MANE Select | ENSP00000357980.3:p.Ile3Asn | |
| ENST00000648167.1:c.154+2951T>A | ENSP00000498033.1:n.154+2951T>A | |
| ENST00000368984.7:c.8T>A | ENSP00000357980.3:p.Ile3Asn | |
| NM_002775.4:c.8T>A | NP_002766.1:p.Ile3Asn | |
| NM_002775.5:c.8T>A MANE Select | NP_002766.1:p.Ile3Asn |