Linked Data
ClinVar Variation Id:
3348
ClinVar RCV Id:
RCV000003512
dbSNP Id:
rs121434252
ExAC:
2:31754440 G / C
gnomAD v2:
2-31754440-G-C
gnomAD v4:
2-31529370-G-C
PubMed:
PMID:10999800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529370G>C , CM000664.2:g.31529370G>C | GRCh38 |
| NC_000002.11:g.31754440G>C , CM000664.1:g.31754440G>C | GRCh37 |
| NC_000002.10:g.31607944G>C | NCBI36 |
| NG_008365.1:g.56602C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.635C>G MANE Select | ENSP00000477587.1:p.Pro212Arg | |
| ENST00000622030.1:c.635C>G | ENSP00000477587.1:p.Pro212Arg | |
| NM_000348.3:c.635C>G | NP_000339.2:p.Pro212Arg | |
| XM_011533069.1:c.413C>G | XP_011531371.1:p.Pro138Arg | |
| XM_011533070.1:c.380C>G | XP_011531372.1:p.Pro127Arg | |
| XM_011533071.1:c.380C>G | XP_011531373.1:p.Pro127Arg | |
| XM_011533072.1:c.380C>G | XP_011531374.1:p.Pro127Arg | |
| XM_011533069.2:c.413C>G | XP_011531371.1:p.Pro138Arg | |
| XM_011533072.2:c.380C>G | XP_011531374.1:p.Pro127Arg | |
| NM_000348.4:c.635C>G MANE Select | NP_000339.2:p.Pro212Arg |