Linked Data
ClinVar Variation Id:
452101
dbSNP Id:
rs372079931
gnomAD v2:
1-120293450-C-G
gnomAD v4:
1-119750827-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119750827C>G , CM000663.2:g.119750827C>G | GRCh38 |
| NC_000001.10:g.120293450C>G , CM000663.1:g.120293450C>G | GRCh37 |
| NC_000001.9:g.120094973C>G | NCBI36 |
| NG_013348.1:g.23106G>C , LRG_447:g.23106G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1502G>C MANE Select | ENSP00000358414.3:p.Arg501Pro | |
| ENST00000369406.7:c.1502G>C | ENSP00000358414.3:p.Arg501Pro | |
| ENST00000544913.2:c.1376G>C | ENSP00000439495.2:p.Arg459Pro | |
| NM_001166107.1:c.1376G>C , LRG_447t2:c.1376G>C | NP_001159579.1:p.Arg459Pro | |
| NM_005518.3:c.1502G>C , LRG_447t1:c.1502G>C | NP_005509.1:p.Arg501Pro | |
| XM_011541313.1:c.1337G>C | XP_011539615.1:p.Arg446Pro | |
| XM_011541313.2:c.1337G>C | XP_011539615.1:p.Arg446Pro | |
| NM_005518.4:c.1502G>C MANE Select | NP_005509.1:p.Arg501Pro |