Linked Data
ClinVar Variation Id:
1352678
ClinVar RCV Id:
RCV002039873
dbSNP Id:
rs1829096799
gnomAD v3:
9-127854328-C-T
gnomAD v4:
9-127854328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854328C>T , CM000671.2:g.127854328C>T | GRCh38 |
| NC_000009.11:g.130616607C>T , CM000671.1:g.130616607C>T | GRCh37 |
| NC_000009.10:g.129656428C>T | NCBI36 |
| NG_009551.1:g.5441G>A , LRG_589:g.5441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.28G>A MANE Select | ENSP00000362299.4:p.Val10Ile | |
| ENST00000344849.4:c.28G>A | ENSP00000341917.3:p.Val10Ile | |
| ENST00000373203.8:c.28G>A | ENSP00000362299.4:p.Val10Ile | |
| NM_000118.3:c.28G>A , LRG_589t1:c.28G>A | NP_000109.1:p.Val10Ile | |
| NM_001114753.2:c.28G>A , LRG_589t2:c.28G>A | NP_001108225.1:p.Val10Ile | |
| NM_001114753.3:c.28G>A MANE Select | NP_001108225.1:p.Val10Ile |