Linked Data
ClinVar Variation Id:
2989235
ClinVar RCV Id:
RCV003849386
dbSNP Id:
rs1368860603
gnomAD v3:
10-122461952-G-A
gnomAD v4:
10-122461952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461952G>A , CM000672.2:g.122461952G>A | GRCh38 |
| NC_000010.10:g.124221468G>A , CM000672.1:g.124221468G>A | GRCh37 |
| NC_000010.9:g.124211458G>A | NCBI36 |
| NG_011554.1:g.5428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.300G>A MANE Select | ENSP00000357980.3:p.Thr100= | |
| ENST00000648167.1:c.154+3243G>A | ENSP00000498033.1:n.154+3243G>A | |
| ENST00000368984.7:c.300G>A | ENSP00000357980.3:p.Thr100= | |
| NM_002775.4:c.300G>A | NP_002766.1:p.Thr100= | |
| NM_002775.5:c.300G>A MANE Select | NP_002766.1:p.Thr100= |