Linked Data
ClinVar Variation Id:
133571
dbSNP Id:
rs78712333
ExAC:
12:46246611 G / A
gnomAD v2:
12-46246611-G-A
gnomAD v3:
12-45852828-G-A
gnomAD v4:
12-45852828-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852828G>A , CM000674.2:g.45852828G>A | GRCh38 |
| NC_000012.11:g.46246611G>A , CM000674.1:g.46246611G>A | GRCh37 |
| NC_000012.10:g.44532878G>A | NCBI36 |
| NG_052800.1:g.128164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4705G>A | ENSP00000415650.3:p.Ala1569Thr | |
| ENST00000457135.2:c.914G>A | ||
| ENST00000334344.11:c.4705G>A MANE Select | ENSP00000335044.6:p.Ala1569Thr | |
| ENST00000422737.6:c.4626G>A | ||
| ENST00000334344.10:c.4705G>A | ENSP00000335044.6:p.Ala1569Thr | |
| ENST00000422737.5:c.4258G>A | ENSP00000415650.1:p.Ala1420Thr | |
| ENST00000444670.5:c.3535G>A | ENSP00000397307.1:p.Ala1179Thr | |
| ENST00000457135.1:c.529G>A | ENSP00000388357.1:p.Ala177Thr | |
| ENST00000479608.5:n.3996G>A | ||
| NM_152641.2:c.4705G>A | NP_689854.2:p.Ala1569Thr | |
| XM_006719272.2:c.4705G>A | XP_006719335.1:p.Ala1569Thr | |
| XM_011538025.1:c.3073G>A | XP_011536327.1:p.Ala1025Thr | |
| XR_944505.1:n.4853G>A | ||
| NM_001347839.1:c.4705G>A | NP_001334768.1:p.Ala1569Thr | |
| NM_152641.3:c.4705G>A | NP_689854.2:p.Ala1569Thr | |
| XM_006719272.4:c.4705G>A | XP_006719335.1:p.Ala1569Thr | |
| XR_944505.3:n.4836G>A | ||
| NM_152641.4:c.4705G>A MANE Select | NP_689854.2:p.Ala1569Thr | |
| NM_001347839.2:c.4705G>A | NP_001334768.1:p.Ala1569Thr |