Linked Data
ClinVar Variation Id:
2869962
ClinVar RCV Id:
RCV003700957
dbSNP Id:
rs1404163250
gnomAD v2:
10-124221431-A-T
gnomAD v4:
10-122461915-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461915A>T , CM000672.2:g.122461915A>T | GRCh38 |
| NC_000010.10:g.124221431A>T , CM000672.1:g.124221431A>T | GRCh37 |
| NC_000010.9:g.124211421A>T | NCBI36 |
| NG_011554.1:g.5391A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.263A>T MANE Select | ENSP00000357980.3:p.Gln88Leu | |
| ENST00000648167.1:c.154+3206A>T | ENSP00000498033.1:n.154+3206A>T | |
| ENST00000368984.7:c.263A>T | ENSP00000357980.3:p.Gln88Leu | |
| NM_002775.4:c.263A>T | NP_002766.1:p.Gln88Leu | |
| NM_002775.5:c.263A>T MANE Select | NP_002766.1:p.Gln88Leu |