Linked Data
dbSNP Id:
rs73019443
ExAC:
11:126215438 G / T
gnomAD v2:
11-126215438-G-T
gnomAD v3:
11-126345543-G-T
gnomAD v4:
11-126345543-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126345543G>T , CM000673.2:g.126345543G>T | GRCh38 |
| NC_000011.9:g.126215438G>T , CM000673.1:g.126215438G>T | GRCh37 |
| NC_000011.8:g.125720648G>T | NCBI36 |
| NG_053153.1:g.47243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263579.5:c.944G>T (DCPS) MANE Select | ENSP00000263579.4:p.Arg315Leu | |
| ENST00000648516.1:c.665G>T (DCPS) | ENSP00000497684.1:p.Arg222Leu | |
| ENST00000263579.4:c.944G>T (DCPS) | ENSP00000263579.4:p.Arg315Leu | |
| ENST00000529149.1:n.2294G>T (DCPS) | ||
| ENST00000530860.5:n.455G>T (DCPS) | ||
| NM_014026.4:c.944G>T (DCPS) | NP_054745.1:p.Arg315Leu | |
| NR_033839.1:n.147-3221C>A (GSEC) | ||
| XM_011542778.1:c.965G>T (DCPS) | XP_011541080.1:p.Arg322Leu | |
| XM_011542779.1:c.665G>T (DCPS) | XP_011541081.1:p.Arg222Leu | |
| XM_011542780.1:c.665G>T (DCPS) | XP_011541082.1:p.Arg222Leu | |
| NM_001350236.1:c.965G>T (DCPS) | NP_001337165.1:p.Arg322Leu | |
| NM_014026.5:c.944G>T (DCPS) | NP_054745.1:p.Arg315Leu | |
| NM_014026.6:c.944G>T (DCPS) MANE Select | NP_054745.1:p.Arg315Leu | |
| NM_001350236.2:c.965G>T (DCPS) | NP_001337165.1:p.Arg322Leu |