Linked Data
ClinVar Variation Id:
377334
ClinVar RCV Id:
RCV000439539
dbSNP Id:
rs140377449
ExAC:
11:126215285 G / A
gnomAD v2:
11-126215285-G-A
gnomAD v3:
11-126345390-G-A
gnomAD v4:
11-126345390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126345390G>A , CM000673.2:g.126345390G>A | GRCh38 |
| NC_000011.9:g.126215285G>A , CM000673.1:g.126215285G>A | GRCh37 |
| NC_000011.8:g.125720495G>A | NCBI36 |
| NG_053153.1:g.47090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263579.5:c.791G>A (DCPS) MANE Select | ENSP00000263579.4:p.Arg264Gln | |
| ENST00000648516.1:c.512G>A (DCPS) | ENSP00000497684.1:p.Arg171Gln | |
| ENST00000263579.4:c.791G>A (DCPS) | ENSP00000263579.4:p.Arg264Gln | |
| ENST00000529149.1:n.2141G>A (DCPS) | ||
| ENST00000530860.5:n.302G>A (DCPS) | ||
| NM_014026.4:c.791G>A (DCPS) | NP_054745.1:p.Arg264Gln | |
| NR_033839.1:n.147-3068C>T (GSEC) | ||
| XM_011542778.1:c.812G>A (DCPS) | XP_011541080.1:p.Arg271Gln | |
| XM_011542779.1:c.512G>A (DCPS) | XP_011541081.1:p.Arg171Gln | |
| XM_011542780.1:c.512G>A (DCPS) | XP_011541082.1:p.Arg171Gln | |
| NM_001350236.1:c.812G>A (DCPS) | NP_001337165.1:p.Arg271Gln | |
| NM_014026.5:c.791G>A (DCPS) | NP_054745.1:p.Arg264Gln | |
| NM_014026.6:c.791G>A (DCPS) MANE Select | NP_054745.1:p.Arg264Gln | |
| NM_001350236.2:c.812G>A (DCPS) | NP_001337165.1:p.Arg271Gln |