Linked Data
ClinVar Variation Id:
478374
dbSNP Id:
rs767196276
ExAC:
3:52433115 G / A
gnomAD v2:
3-52433115-G-A
gnomAD v3:
3-52399099-G-A
gnomAD v4:
3-52399099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52399099G>A , CM000665.2:g.52399099G>A | GRCh38 |
| NC_000003.11:g.52433115G>A , CM000665.1:g.52433115G>A | GRCh37 |
| NC_000003.10:g.52408155G>A | NCBI36 |
| NG_031859.1:g.15895C>T , LRG_529:g.15895C>T | |
| NG_052911.1:g.87781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.12339G>A MANE Select | ENSP00000401514.2:p.Trp4113Ter | |
| ENST00000420323.6:c.12339G>A | ENSP00000401514.2:p.Trp4113Ter | |
| ENST00000486752.5:n.12796G>A | ||
| ENST00000488988.5:n.4125G>A | ||
| ENST00000490713.5:c.2908G>A | ENSP00000419071.1:n.2908G>A | |
| NM_015512.4:c.12339G>A | NP_056327.4:p.Trp4113Ter | |
| XM_011533577.1:c.12408G>A | XP_011531879.1:p.Trp4136Ter | |
| XM_017006129.1:c.12408G>A | XP_016861618.1:p.Trp4136Ter | |
| XM_017006130.1:c.12339G>A | XP_016861619.1:p.Trp4113Ter | |
| XM_017006131.1:c.12282G>A | XP_016861620.1:p.Trp4094Ter | |
| XR_001740098.1:n.15426G>A | ||
| XR_001740099.1:n.15426G>A | ||
| NM_015512.5:c.12339G>A MANE Select | NP_056327.4:p.Trp4113Ter |