Linked Data
ClinVar Variation Id:
343424
dbSNP Id:
rs146477698
ExAC:
3:133467331 G / A
gnomAD v2:
3-133467331-G-A
gnomAD v3:
3-133748487-G-A
gnomAD v4:
3-133748487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133748487G>A , CM000665.2:g.133748487G>A | GRCh38 |
| NC_000003.11:g.133467331G>A , CM000665.1:g.133467331G>A | GRCh37 |
| NC_000003.10:g.134950021G>A | NCBI36 |
| NG_013080.1:g.7355G>A | |
| NG_013080.2:g.91490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.119G>A (TF) MANE Select | ENSP00000385834.3:p.Ser40Asn | |
| ENST00000402696.7:c.119G>A (TF) | ENSP00000385834.3:p.Ser40Asn | |
| ENST00000414694.5:c.119G>A (TF) | ENSP00000401505.1:p.Ser40Asn | |
| ENST00000460531.5:n.91+2004G>A (TF) | ||
| ENST00000460564.5:n.382-5108G>A (INHCAP) | ||
| ENST00000466911.5:c.-14G>A (TF) | ENSP00000417468.1:n.-14G>A | |
| ENST00000474287.5:n.232G>A (TF) | ||
| ENST00000475382.5:n.211G>A (TF) | ||
| ENST00000482271.5:c.-166+2004G>A (TF) | ENSP00000419338.1:n.-166+2004G>A | |
| ENST00000485977.1:c.119G>A (TF) | ENSP00000418716.1:p.Ser40Asn | |
| ENST00000493011.5:n.167G>A (TF) | ||
| ENST00000494430.5:c.119G>A (TF) | ENSP00000418396.1:p.Ser40Asn | |
| ENST00000498622.1:n.348G>A (TF) | ||
| NM_001063.3:c.119G>A (TF) | NP_001054.1:p.Ser40Asn | |
| XM_011513100.1:c.119G>A (TF) | XP_011511402.1:p.Ser40Asn | |
| NM_001354703.1:c.-14G>A (TF) | NP_001341632.1:n.-14G>A | |
| NM_001354704.1:c.-166+2004G>A (TF) | NP_001341633.1:n.-166+2004G>A | |
| NM_001063.4:c.119G>A (TF) MANE Select | NP_001054.2:p.Ser40Asn | |
| NM_001354703.2:c.-14G>A (TF) | NP_001341632.2:n.-14G>A | |
| NM_001354704.2:c.-166+2004G>A (TF) | NP_001341633.2:n.-166+2004G>A |