Linked Data
ClinVar Variation Id:
372235
ClinVar RCV Id:
RCV000412619
dbSNP Id:
rs137941190
ExAC:
11:126215441 C / T
gnomAD v2:
11-126215441-C-T
gnomAD v3:
11-126345546-C-T
gnomAD v4:
11-126345546-C-T
PubMed:
PMID:25701870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126345546C>T , CM000673.2:g.126345546C>T | GRCh38 |
| NC_000011.9:g.126215441C>T , CM000673.1:g.126215441C>T | GRCh37 |
| NC_000011.8:g.125720651C>T | NCBI36 |
| NG_053153.1:g.47246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263579.5:c.947C>T (DCPS) MANE Select | ENSP00000263579.4:p.Thr316Met | |
| ENST00000648516.1:c.668C>T (DCPS) | ENSP00000497684.1:p.Thr223Met | |
| ENST00000263579.4:c.947C>T (DCPS) | ENSP00000263579.4:p.Thr316Met | |
| ENST00000529149.1:n.2297C>T (DCPS) | ||
| ENST00000530860.5:n.458C>T (DCPS) | ||
| NM_014026.4:c.947C>T (DCPS) | NP_054745.1:p.Thr316Met | |
| NR_033839.1:n.147-3224G>A (GSEC) | ||
| XM_011542778.1:c.968C>T (DCPS) | XP_011541080.1:p.Thr323Met | |
| XM_011542779.1:c.668C>T (DCPS) | XP_011541081.1:p.Thr223Met | |
| XM_011542780.1:c.668C>T (DCPS) | XP_011541082.1:p.Thr223Met | |
| NM_001350236.1:c.968C>T (DCPS) | NP_001337165.1:p.Thr323Met | |
| NM_014026.5:c.947C>T (DCPS) | NP_054745.1:p.Thr316Met | |
| NM_014026.6:c.947C>T (DCPS) MANE Select | NP_054745.1:p.Thr316Met | |
| NM_001350236.2:c.968C>T (DCPS) | NP_001337165.1:p.Thr323Met |