Linked Data
ClinVar Variation Id:
1613395
ClinVar RCV Id:
RCV002183174
dbSNP Id:
rs1336985592
gnomAD v2:
6-3155075-C-T
gnomAD v4:
6-3154841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154841C>T , CM000668.2:g.3154841C>T | GRCh38 |
| NC_000006.11:g.3155075C>T , CM000668.1:g.3155075C>T | GRCh37 |
| NC_000006.10:g.3100074C>T | NCBI36 |
| NG_042223.1:g.7709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.360G>A MANE Select | ENSP00000369703.2:p.Val120= | |
| ENST00000679400.1:n.416G>A | ||
| ENST00000679907.1:n.748G>A | ||
| ENST00000680036.1:n.1142G>A | ||
| ENST00000680967.1:n.1450G>A | ||
| ENST00000333628.3:c.360G>A | ENSP00000369703.2:p.Val120= | |
| ENST00000489942.1:n.555G>A | ||
| NM_001069.2:c.360G>A | NP_001060.1:p.Val120= | |
| NM_001310315.1:c.105G>A | NP_001297244.1:p.Val35= | |
| NM_001069.3:c.360G>A MANE Select | NP_001060.1:p.Val120= | |
| NM_001310315.2:c.105G>A | NP_001297244.1:p.Val35= |