Linked Data
ClinVar Variation Id:
1596733
ClinVar RCV Id:
RCV002113477
dbSNP Id:
rs370158515
ExAC:
3:142281058 C / G
gnomAD v2:
3-142281058-C-G
gnomAD v3:
3-142562216-C-G
gnomAD v4:
3-142562216-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562216C>G , CM000665.2:g.142562216C>G | GRCh38 |
| NC_000003.11:g.142281058C>G , CM000665.1:g.142281058C>G | GRCh37 |
| NC_000003.10:g.143763748C>G | NCBI36 |
| NG_008951.1:g.21611G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.1170+16G>C MANE Select | ENSP00000343741.4:n.1170+16G>C | |
| ENST00000515149.3:c.293-795G>C | ENSP00000425897.3:n.293-795G>C | |
| ENST00000653868.1:n.1199+16G>C | ||
| ENST00000657914.1:n.3528+16G>C | ||
| ENST00000659195.1:n.3251G>C | ||
| ENST00000661310.1:c.1170+16G>C | ENSP00000499589.1:n.1170+16G>C | |
| ENST00000350721.8:c.1170+16G>C | ENSP00000343741.4:n.1170+16G>C | |
| ENST00000507148.1:c.*106+16G>C | ENSP00000426595.1:n.*106+16G>C | |
| ENST00000515149.2:c.213+16G>C | ENSP00000425897.2:n.213+16G>C | |
| NM_001184.3:c.1170+16G>C | NP_001175.2:n.1170+16G>C | |
| XM_011512924.1:c.1170+16G>C | XP_011511226.1:n.1170+16G>C | |
| XM_011512925.1:c.1170+16G>C | XP_011511227.1:n.1170+16G>C | |
| XM_011512926.1:c.1170+16G>C | XP_011511228.1:n.1170+16G>C | |
| XM_011512927.1:c.1170+16G>C | XP_011511229.1:n.1170+16G>C | |
| XR_924147.1:n.1259+16G>C | ||
| XR_924148.1:n.1259+16G>C | ||
| XR_924149.1:n.1259+16G>C | ||
| NM_001354579.1:c.1170+16G>C | NP_001341508.1:n.1170+16G>C | |
| XR_001740179.2:n.1259+16G>C | ||
| XR_001740180.2:n.1259+16G>C | ||
| XR_001740181.2:n.1259+16G>C | ||
| XR_001740182.1:n.1259+16G>C | ||
| XR_002959543.1:n.1259+16G>C | ||
| XR_924148.2:n.1259+16G>C | ||
| NM_001184.4:c.1170+16G>C MANE Select | NP_001175.2:n.1170+16G>C | |
| NM_001354579.2:c.1170+16G>C | NP_001341508.1:n.1170+16G>C |