Linked Data
ClinVar Variation Id:
478436
dbSNP Id:
rs181919231
ExAC:
3:52386622 G / A
gnomAD v2:
3-52386622-G-A
gnomAD v3:
3-52352606-G-A
gnomAD v4:
3-52352606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52352606G>A , CM000665.2:g.52352606G>A | GRCh38 |
| NC_000003.11:g.52386622G>A , CM000665.1:g.52386622G>A | GRCh37 |
| NC_000003.10:g.52361662G>A | NCBI36 |
| NG_052911.1:g.41288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.2926G>A MANE Select | ENSP00000401514.2:p.Ala976Thr | |
| ENST00000420323.6:c.2926G>A | ENSP00000401514.2:p.Ala976Thr | |
| ENST00000486752.5:n.3187G>A | ||
| ENST00000497875.1:n.3091G>A | ||
| NM_015512.4:c.2926G>A | NP_056327.4:p.Ala976Thr | |
| XM_011533577.1:c.2926G>A | XP_011531879.1:p.Ala976Thr | |
| XM_017006129.1:c.2926G>A | XP_016861618.1:p.Ala976Thr | |
| XM_017006130.1:c.2926G>A | XP_016861619.1:p.Ala976Thr | |
| XM_017006131.1:c.2926G>A | XP_016861620.1:p.Ala976Thr | |
| XM_017006132.1:c.2926G>A | XP_016861621.1:p.Ala976Thr | |
| XM_017006133.1:c.2926G>A | XP_016861622.1:p.Ala976Thr | |
| XR_001740098.1:n.6075G>A | ||
| XR_001740099.1:n.6075G>A | ||
| NM_015512.5:c.2926G>A MANE Select | NP_056327.4:p.Ala976Thr |