Linked Data
ClinVar Variation Id:
5717
ClinVar RCV Id:
RCV000006071
dbSNP Id:
rs137853142
ExAC:
4:25665889 G / C
gnomAD v2:
4-25665889-G-C
gnomAD v3:
4-25664267-G-C
gnomAD v4:
4-25664267-G-C
PubMed:
PMID:16960801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25664267G>C , CM000666.2:g.25664267G>C | GRCh38 |
| NC_000004.11:g.25665889G>C , CM000666.1:g.25665889G>C | GRCh37 |
| NC_000004.10:g.25274987G>C | NCBI36 |
| NG_021185.1:g.13455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382051.8:c.316G>C MANE Select | ENSP00000371483.3:p.Gly106Arg | |
| ENST00000645788.1:c.313G>C | ENSP00000494094.1:p.Gly105Arg | |
| ENST00000382051.7:c.316G>C | ENSP00000371483.3:p.Gly106Arg | |
| ENST00000503434.5:c.313G>C | ENSP00000423021.1:p.Gly105Arg | |
| ENST00000504570.5:c.313G>C | ENSP00000425501.1:p.Gly105Arg | |
| ENST00000507530.1:c.316G>C | ENSP00000424266.1:p.Gly106Arg | |
| ENST00000513204.5:c.313G>C | ENSP00000423038.1:p.Gly105Arg | |
| NM_001177998.1:c.313G>C | NP_001171469.1:p.Gly105Arg | |
| NM_001177999.1:c.313G>C | NP_001171470.1:p.Gly105Arg | |
| NM_006424.2:c.316G>C | NP_006415.2:p.Gly106Arg | |
| NM_006424.3:c.316G>C MANE Select | NP_006415.3:p.Gly106Arg | |
| NM_001177998.2:c.313G>C | NP_001171469.2:p.Gly105Arg | |
| NM_001177999.2:c.313G>C | NP_001171470.2:p.Gly105Arg |