Linked Data
ClinVar Variation Id:
166708
dbSNP Id:
rs143142641
ExAC:
12:124229303 G / A
gnomAD v2:
12-124229303-G-A
gnomAD v3:
12-123744756-G-A
gnomAD v4:
12-123744756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744756G>A , CM000674.2:g.123744756G>A | GRCh38 |
| NC_000012.11:g.124229303G>A , CM000674.1:g.124229303G>A | GRCh37 |
| NC_000012.10:g.122795256G>A | NCBI36 |
| NG_012743.1:g.37439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1486G>A MANE Select | ENSP00000332247.2:p.Ala496Thr | |
| ENST00000540368.6:n.1517G>A | ||
| ENST00000674794.1:c.1574G>A | ||
| ENST00000675260.1:n.761G>A | ||
| ENST00000675344.1:c.*507G>A | ENSP00000501953.1:n.*507G>A | |
| ENST00000330342.7:c.1486G>A | ENSP00000332247.2:p.Ala496Thr | |
| ENST00000536426.1:n.503G>A | ||
| ENST00000545059.5:n.4122G>A | ||
| NM_012463.3:c.1486G>A | NP_036595.2:p.Ala496Thr | |
| XM_005253563.1:c.1486G>A | XP_005253620.1:p.Ala496Thr | |
| XM_006719317.2:c.973G>A | XP_006719380.1:p.Ala325Thr | |
| XM_006719318.2:c.664G>A | XP_006719381.1:p.Ala222Thr | |
| XR_429088.1:n.1649G>A | ||
| XM_024448910.1:c.1486G>A | XP_024304678.1:p.Ala496Thr | |
| XM_024448911.1:c.973G>A | XP_024304679.1:p.Ala325Thr | |
| XM_024448912.1:c.664G>A | XP_024304680.1:p.Ala222Thr | |
| NM_012463.4:c.1486G>A MANE Select | NP_036595.2:p.Ala496Thr |