Linked Data
ClinVar Variation Id:
1770326
ClinVar RCV Id:
RCV002387674
dbSNP Id:
rs942514260
gnomAD v2:
12-114841571-C-T
gnomAD v3:
12-114403766-C-T
gnomAD v4:
12-114403766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403766C>T , CM000674.2:g.114403766C>T | GRCh38 |
| NC_000012.11:g.114841571C>T , CM000674.1:g.114841571C>T | GRCh37 |
| NC_000012.10:g.113325954C>T | NCBI36 |
| NG_007373.1:g.9677G>A , LRG_670:g.9677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.133G>A MANE Select | ENSP00000384152.3:p.Ala45Thr | |
| ENST00000310346.8:c.133G>A | ENSP00000309913.4:p.Ala45Thr | |
| ENST00000349716.9:c.-3-1846G>A | ENSP00000337723.5:n.-3-1846G>A | |
| ENST00000405440.6:c.133G>A | ENSP00000384152.2:p.Ala45Thr | |
| ENST00000526441.1:c.133G>A | ENSP00000433292.1:p.Ala45Thr | |
| ENST00000552726.1:n.184G>A | ||
| NM_000192.3:c.133G>A , LRG_670t1:c.133G>A | NP_000183.2:p.Ala45Thr | |
| NM_080717.2:c.-3-1846G>A | NP_542448.1:n.-3-1846G>A | |
| NM_181486.2:c.133G>A | NP_852259.1:p.Ala45Thr | |
| XM_017019912.1:c.181G>A | XP_016875401.1:p.Ala61Thr | |
| NM_080717.3:c.-3-1846G>A | NP_542448.1:n.-3-1846G>A | |
| NM_181486.4:c.133G>A MANE Select | NP_852259.1:p.Ala45Thr | |
| NM_080717.4:c.-3-1846G>A | NP_542448.1:n.-3-1846G>A |