Linked Data
ClinVar Variation Id:
374532
dbSNP Id:
rs573292460
ExAC:
10:99344566 G / A
gnomAD v2:
10-99344566-G-A
gnomAD v3:
10-97584809-G-A
gnomAD v4:
10-97584809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97584809G>A , CM000672.2:g.97584809G>A | GRCh38 |
| NC_000010.10:g.99344566G>A , CM000672.1:g.99344566G>A | GRCh37 |
| NC_000010.9:g.99334556G>A | NCBI36 |
| NG_027922.1:g.5465G>A | |
| NG_034079.1:g.17369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.106G>A MANE Select | ENSP00000359680.4:p.Ala36Thr | |
| ENST00000370646.8:c.106G>A | ENSP00000359680.4:p.Ala36Thr | |
| ENST00000370647.8:c.106G>A | ENSP00000359681.4:p.Ala36Thr | |
| ENST00000370649.3:c.106G>A | ENSP00000359683.3:p.Ala36Thr | |
| ENST00000465608.1:n.487G>A | ||
| NM_001134670.1:c.106G>A | NP_001128142.1:p.Ala36Thr | |
| NM_138413.3:c.106G>A | NP_612422.2:p.Ala36Thr | |
| NM_138413.4:c.106G>A MANE Select | NP_612422.2:p.Ala36Thr | |
| NM_001134670.2:c.106G>A | NP_001128142.1:p.Ala36Thr |