Linked Data
ClinVar Variation Id:
37312
dbSNP Id:
rs149782619
ExAC:
5:130500789 C / G
gnomAD v2:
5-130500789-C-G
gnomAD v3:
5-131165096-C-G
gnomAD v4:
5-131165096-C-G
PubMed:
PMID:22961002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131165096C>G , CM000667.2:g.131165096C>G | GRCh38 |
| NC_000005.9:g.130500789C>G , CM000667.1:g.130500789C>G | GRCh37 |
| NC_000005.8:g.130528688C>G | NCBI36 |
| NG_032998.1:g.5253G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304043.10:c.110G>C MANE Select | ENSP00000304229.5:p.Arg37Pro | |
| ENST00000506207.2:n.237-2420G>C | ||
| ENST00000506908.2:c.110G>C | ENSP00000426860.1:p.Arg37Pro | |
| ENST00000508488.2:c.110G>C | ENSP00000427499.1:p.Arg37Pro | |
| ENST00000511475.6:c.110G>C | ENSP00000427008.1:p.Arg37Pro | |
| ENST00000513012.2:c.110G>C | ENSP00000422444.1:p.Arg37Pro | |
| ENST00000513345.6:c.110G>C | ENSP00000421608.1:p.Arg37Pro | |
| ENST00000520028.2:c.110G>C | ENSP00000430909.2:p.Arg37Pro | |
| ENST00000675100.1:c.110G>C | ENSP00000502350.1:p.Arg37Pro | |
| ENST00000675372.1:c.110G>C | ENSP00000502792.1:p.Arg37Pro | |
| ENST00000675491.1:c.110G>C | ENSP00000502370.1:p.Arg37Pro | |
| ENST00000304043.9:c.110G>C | ENSP00000304229.5:p.Arg37Pro | |
| ENST00000504202.1:c.110G>C | ENSP00000425260.1:p.Arg37Pro | |
| ENST00000506207.1:n.131-2420G>C | ||
| ENST00000506908.1:c.110G>C | ENSP00000426860.1:p.Arg37Pro | |
| ENST00000508488.1:c.110G>C | ENSP00000427499.1:p.Arg37Pro | |
| ENST00000508495.5:c.110G>C | ENSP00000424974.1:p.Arg37Pro | |
| ENST00000511475.5:c.110G>C | ENSP00000427008.1:p.Arg37Pro | |
| ENST00000513012.1:c.110G>C | ENSP00000422444.1:p.Arg37Pro | |
| ENST00000513345.5:c.110G>C | ENSP00000421608.1:p.Arg37Pro | |
| NM_005340.6:c.110G>C | NP_005331.1:p.Arg37Pro | |
| NR_024610.2:n.253G>C | ||
| NR_024611.2:n.253G>C | ||
| NR_073488.1:n.253G>C | ||
| XM_011543356.1:c.110G>C | XP_011541658.1:p.Arg37Pro | |
| NR_134494.1:n.253G>C | ||
| NR_134495.1:n.253G>C | ||
| NM_005340.7:c.110G>C MANE Select | NP_005331.1:p.Arg37Pro | |
| NR_024610.3:n.161G>C | ||
| NR_024611.3:n.161G>C | ||
| NR_073488.2:n.161G>C | ||
| NR_134494.2:n.161G>C | ||
| NR_134495.2:n.161G>C |