Linked Data
ClinVar Variation Id:
3102737
ClinVar RCV Id:
RCV004396127
dbSNP Id:
rs6832675
ExAC:
4:71705207 G / C
gnomAD v2:
4-71705207-G-C
gnomAD v3:
4-70839490-G-C
gnomAD v4:
4-70839490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70839490G>C , CM000666.2:g.70839490G>C | GRCh38 |
| NC_000004.11:g.71705207G>C , CM000666.1:g.71705207G>C | GRCh37 |
| NC_000004.10:g.71924071G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254799.11:c.338C>G MANE Select | ENSP00000254799.6:p.Pro113Arg | |
| ENST00000254799.10:c.338C>G | ENSP00000254799.6:p.Pro113Arg | |
| ENST00000499044.6:c.14C>G | ENSP00000427354.1:p.Pro5Arg | |
| ENST00000505068.5:n.408C>G | ||
| ENST00000545193.5:c.170C>G | ENSP00000443380.2:p.Pro57Arg | |
| NM_001098477.1:c.-392C>G | NP_001091947.1:n.-392C>G | |
| NM_002092.3:c.338C>G | NP_002083.3:p.Pro113Arg | |
| XM_005265681.2:c.338C>G | XP_005265738.1:p.Pro113Arg | |
| XM_011531897.1:c.-129-3176C>G | XP_011530199.1:n.-129-3176C>G | |
| XM_005265681.4:c.338C>G | XP_005265738.1:p.Pro113Arg | |
| XM_011531897.3:c.-129-3176C>G | XP_011530199.1:n.-129-3176C>G | |
| NM_002092.4:c.338C>G MANE Select | NP_002083.4:p.Pro113Arg |