Linked Data
ClinVar Variation Id:
1005493
ClinVar RCV Id:
RCV001302375
dbSNP Id:
rs1469047599
gnomAD v2:
12-6952227-G-A
gnomAD v3:
12-6843063-G-A
gnomAD v4:
12-6843063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843063G>A , CM000674.2:g.6843063G>A | GRCh38 |
| NC_000012.11:g.6952227G>A , CM000674.1:g.6952227G>A | GRCh37 |
| NC_000012.10:g.6822488G>A | NCBI36 |
| NG_009100.1:g.7853G>A | |
| NG_009100.2:g.7853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.190G>A MANE Select | ENSP00000229264.3:p.Ala64Thr | |
| ENST00000229264.7:c.190G>A | ENSP00000229264.3:p.Ala64Thr | |
| ENST00000435982.6:c.190G>A | ENSP00000414734.2:p.Ala64Thr | |
| ENST00000537035.1:c.190G>A | ENSP00000445967.1:p.Ala64Thr | |
| ENST00000539127.5:c.*210G>A | ENSP00000444325.1:n.*210G>A | |
| ENST00000540458.5:n.1541G>A | ||
| ENST00000541257.5:c.190G>A | ENSP00000442002.1:p.Ala64Thr | |
| ENST00000541978.5:c.190G>A | ENSP00000439753.2:p.Ala64Thr | |
| NM_001297571.1:c.190G>A | NP_001284500.1:p.Ala64Thr | |
| NM_002075.3:c.190G>A | NP_002066.1:p.Ala64Thr | |
| XM_011520953.1:c.190G>A | XP_011519255.1:p.Ala64Thr | |
| XM_011520954.1:c.190G>A | XP_011519256.1:p.Ala64Thr | |
| XM_011520953.3:c.190G>A | XP_011519255.1:p.Ala64Thr | |
| NM_001297571.2:c.190G>A | NP_001284500.1:p.Ala64Thr | |
| NM_002075.4:c.190G>A MANE Select | NP_002066.1:p.Ala64Thr |