Linked Data
ClinVar Variation Id:
3104658
ClinVar RCV Id:
RCV004401516
dbSNP Id:
rs200537365
ExAC:
15:50534717 T / A
gnomAD v2:
15-50534717-T-A
gnomAD v3:
15-50242520-T-A
gnomAD v4:
15-50242520-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242520T>A , CM000677.2:g.50242520T>A | GRCh38 |
| NC_000015.9:g.50534717T>A , CM000677.1:g.50534717T>A | GRCh37 |
| NC_000015.8:g.48322009T>A | NCBI36 |
| NG_027487.1:g.28446A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1729A>T MANE Select | ENSP00000267845.3:p.Thr577Ser | |
| ENST00000267845.7:c.1729A>T | ENSP00000267845.3:p.Thr577Ser | |
| ENST00000543581.5:c.1630A>T | ENSP00000440252.1:p.Thr544Ser | |
| ENST00000559816.1:n.1473A>T | ||
| NM_001306146.1:c.1630A>T | NP_001293075.1:p.Thr544Ser | |
| NM_002112.3:c.1729A>T | NP_002103.2:p.Thr577Ser | |
| XM_011521479.1:c.1492A>T | XP_011519781.1:p.Thr498Ser | |
| XM_011521480.1:c.1297A>T | XP_011519782.1:p.Thr433Ser | |
| XM_017022094.1:c.1834A>T | XP_016877583.1:p.Thr612Ser | |
| XM_017022095.1:c.1735A>T | XP_016877584.1:p.Thr579Ser | |
| XM_017022096.1:c.1606A>T | XP_016877585.1:p.Thr536Ser | |
| XM_017022097.1:c.1597A>T | XP_016877586.1:p.Thr533Ser | |
| XM_017022098.1:c.1402A>T | XP_016877587.1:p.Thr468Ser | |
| NM_002112.4:c.1729A>T MANE Select | NP_002103.2:p.Thr577Ser | |
| NM_001306146.2:c.1630A>T | NP_001293075.1:p.Thr544Ser |