Linked Data
ClinVar Variation Id:
880056
ClinVar RCV Id:
RCV001108055
dbSNP Id:
rs1329676998
gnomAD v2:
10-124266273-A-C
gnomAD v3:
10-122506757-A-C
gnomAD v4:
10-122506757-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506757A>C , CM000672.2:g.122506757A>C | GRCh38 |
| NC_000010.10:g.124266273A>C , CM000672.1:g.124266273A>C | GRCh37 |
| NC_000010.9:g.124256263A>C | NCBI36 |
| NG_011554.1:g.50233A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.844A>C MANE Select | ENSP00000357980.3:p.Ile282Leu | |
| ENST00000648167.1:c.526A>C | ENSP00000498033.1:p.Ile176Leu | |
| ENST00000368984.7:c.844A>C | ENSP00000357980.3:p.Ile282Leu | |
| ENST00000420892.1:c.67A>C | ENSP00000412676.1:p.Ile23Leu | |
| NM_002775.4:c.844A>C | NP_002766.1:p.Ile282Leu | |
| NM_002775.5:c.844A>C MANE Select | NP_002766.1:p.Ile282Leu |