Linked Data
ClinVar Variation Id:
850682
ClinVar RCV Id:
RCV001054902
dbSNP Id:
rs1341523879
gnomAD v2:
3-8787227-G-A
gnomAD v4:
3-8745541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745541G>A , CM000665.2:g.8745541G>A | GRCh38 |
| NC_000003.11:g.8787227G>A , CM000665.1:g.8787227G>A | GRCh37 |
| NC_000003.10:g.8762227G>A | NCBI36 |
| NG_008797.2:g.16732G>A , LRG_329:g.16732G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.130G>A MANE Select | ENSP00000341940.2:p.Val44Met | |
| ENST00000343849.2:c.130G>A | ENSP00000341940.2:p.Val44Met | |
| ENST00000397368.2:c.130G>A | ENSP00000380525.2:p.Val44Met | |
| ENST00000472766.1:n.155+11551G>A | ||
| NM_001234.4:c.130G>A | NP_001225.1:p.Val44Met | |
| NM_033337.2:c.130G>A , LRG_329t1:c.130G>A | NP_203123.1:p.Val44Met | |
| NM_001234.5:c.130G>A | NP_001225.1:p.Val44Met | |
| NM_033337.3:c.130G>A MANE Select | NP_203123.1:p.Val44Met |