Linked Data
dbSNP Id:
rs117446067
gnomAD v2:
3-123003465-G-C
gnomAD v3:
3-123284618-G-C
gnomAD v4:
3-123284618-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123284618G>C , CM000665.2:g.123284618G>C | GRCh38 |
| NC_000003.11:g.123003465G>C , CM000665.1:g.123003465G>C | GRCh37 |
| NC_000003.10:g.124486155G>C | NCBI36 |
| NG_033882.1:g.168928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2453C>G | ENSP00000420082.2:p.Pro818Arg | |
| ENST00000470367.2:c.2741C>G | ENSP00000514541.1:p.Pro914Arg | |
| ENST00000483566.2:c.2453C>G | ENSP00000420252.2:p.Pro818Arg | |
| ENST00000699714.1:c.2453C>G | ENSP00000514539.1:p.Pro818Arg | |
| ENST00000699715.1:c.2453C>G | ENSP00000514540.1:p.Pro818Arg | |
| ENST00000699716.1:c.2453C>G | ENSP00000514542.1:p.Pro818Arg | |
| ENST00000699717.1:n.2179C>G | ||
| ENST00000699718.1:c.3851C>G | ENSP00000514543.1:p.Pro1284Arg | |
| ENST00000462833.6:c.3776C>G MANE Select | ENSP00000419361.1:p.Pro1259Arg | |
| ENST00000309879.9:c.2726C>G | ENSP00000308685.5:p.Pro909Arg | |
| ENST00000462833.5:c.3776C>G | ENSP00000419361.1:p.Pro1259Arg | |
| ENST00000478092.1:n.546C>G | ||
| ENST00000491190.5:c.2750C>G | ENSP00000418537.1:p.Pro917Arg | |
| NM_001199642.1:c.2726C>G | NP_001186571.1:p.Pro909Arg | |
| NM_183357.2:c.3776C>G | NP_899200.1:p.Pro1259Arg | |
| XM_005247077.2:c.3851C>G | XP_005247134.1:p.Pro1284Arg | |
| XM_005247078.1:c.2801C>G | XP_005247135.1:p.Pro934Arg | |
| XM_006713483.1:c.2750C>G | XP_006713546.1:p.Pro917Arg | |
| XM_006713484.1:c.2528C>G | XP_006713547.1:p.Pro843Arg | |
| XM_011512359.1:c.2852C>G | XP_011510661.1:p.Pro951Arg | |
| XM_011512360.1:c.2762C>G | XP_011510662.1:p.Pro921Arg | |
| XM_011512361.1:c.2528C>G | XP_011510663.1:p.Pro843Arg | |
| XM_005247077.4:c.3851C>G | XP_005247134.1:p.Pro1284Arg | |
| XM_011512359.2:c.2852C>G | XP_011510661.1:p.Pro951Arg | |
| XM_011512360.3:c.2762C>G | XP_011510662.1:p.Pro921Arg | |
| XM_017005638.1:c.2753C>G | XP_016861127.1:p.Pro918Arg | |
| XM_017005639.1:c.2753C>G | XP_016861128.1:p.Pro918Arg | |
| NM_001378259.1:c.3851C>G | NP_001365188.1:p.Pro1284Arg | |
| NM_183357.3:c.3776C>G MANE Select | NP_899200.1:p.Pro1259Arg |