Linked Data
ClinVar Variation Id:
1679747
ClinVar RCV Id:
RCV002227771
dbSNP Id:
rs2133905276
gnomAD v4:
10-122461935-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461935G>T , CM000672.2:g.122461935G>T | GRCh38 |
| NC_000010.10:g.124221451G>T , CM000672.1:g.124221451G>T | GRCh37 |
| NC_000010.9:g.124211441G>T | NCBI36 |
| NG_011554.1:g.5411G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.283G>T MANE Select | ENSP00000357980.3:p.Val95Leu | |
| ENST00000648167.1:c.154+3226G>T | ENSP00000498033.1:n.154+3226G>T | |
| ENST00000368984.7:c.283G>T | ENSP00000357980.3:p.Val95Leu | |
| NM_002775.4:c.283G>T | NP_002766.1:p.Val95Leu | |
| NM_002775.5:c.283G>T MANE Select | NP_002766.1:p.Val95Leu |