Linked Data
ClinVar Variation Id:
44145
dbSNP Id:
rs3915061
ExAC:
3:121712805 G / C
gnomAD v2:
3-121712805-G-C
gnomAD v3:
3-121993958-G-C
gnomAD v4:
3-121993958-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993958G>C , CM000665.2:g.121993958G>C | GRCh38 |
| NC_000003.11:g.121712805G>C , CM000665.1:g.121712805G>C | GRCh37 |
| NC_000003.10:g.123195495G>C | NCBI36 |
| NG_031870.1:g.33323C>G | |
| NG_031870.2:g.71597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.791C>G MANE Select | ENSP00000345667.5:p.Pro264Arg | |
| ENST00000460554.2:n.741C>G | ||
| ENST00000642615.1:c.779-7C>G | ENSP00000495499.1:n.779-7C>G | |
| ENST00000273691.7:c.659C>G | ENSP00000273691.3:p.Pro220Arg | |
| ENST00000344209.9:c.791C>G | ENSP00000345667.5:p.Pro264Arg | |
| ENST00000393631.5:c.524C>G | ENSP00000377251.1:p.Pro175Arg | |
| ENST00000460554.1:n.900-7C>G | ||
| ENST00000462014.1:c.695C>G | ENSP00000419414.1:p.Pro232Arg | |
| NM_001199799.1:c.791C>G | NP_001186728.1:p.Pro264Arg | |
| NM_001199800.1:c.524C>G | NP_001186729.1:p.Pro175Arg | |
| NM_175924.3:c.659C>G | NP_787120.1:p.Pro220Arg | |
| XM_005247389.3:c.695C>G | XP_005247446.1:p.Pro232Arg | |
| XM_011512738.1:c.791C>G | XP_011511040.1:p.Pro264Arg | |
| XM_011512739.1:c.254C>G | XP_011511041.1:p.Pro85Arg | |
| XM_005247389.4:c.695C>G | XP_005247446.1:p.Pro232Arg | |
| XM_011512738.2:c.791C>G | XP_011511040.1:p.Pro264Arg | |
| XM_011512739.2:c.254C>G | XP_011511041.1:p.Pro85Arg | |
| NM_001199799.2:c.791C>G MANE Select | NP_001186728.1:p.Pro264Arg | |
| NM_001199800.2:c.524C>G | NP_001186729.1:p.Pro175Arg | |
| NM_175924.4:c.659C>G | NP_787120.1:p.Pro220Arg |