Linked Data
dbSNP Id:
rs142972675
ExAC:
22:46748176 C / G
gnomAD v2:
22-46748176-C-G
gnomAD v4:
22-46352279-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46352279C>G , CM000684.2:g.46352279C>G | GRCh38 |
| NC_000022.10:g.46748176C>G , CM000684.1:g.46748176C>G | GRCh37 |
| NC_000022.9:g.45126840C>G | NCBI36 |
| NG_012173.1:g.21879C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465378.6:n.769C>G | ||
| ENST00000642923.1:c.616C>G | ENSP00000494255.1:p.Pro206Ala | |
| ENST00000643137.1:c.616C>G | ENSP00000495331.1:p.Pro206Ala | |
| ENST00000644006.1:c.*165C>G | ENSP00000493778.1:n.*165C>G | |
| ENST00000645026.1:n.772C>G | ||
| ENST00000645190.1:c.721C>G MANE Select | ENSP00000496496.1:p.Pro241Ala | |
| ENST00000647301.1:c.*165C>G | ENSP00000496641.1:n.*165C>G | |
| ENST00000290846.8:c.721C>G | ENSP00000290846.4:p.Pro241Ala | |
| ENST00000381019.3:c.721C>G | ENSP00000370407.3:p.Pro241Ala | |
| ENST00000381021.7:c.*314C>G | ENSP00000370409.3:n.*314C>G | |
| ENST00000441818.5:c.*255C>G | ENSP00000393014.1:n.*255C>G | |
| ENST00000453630.5:c.*259C>G | ENSP00000398488.1:n.*259C>G | |
| ENST00000456595.5:c.*255C>G | ENSP00000413880.1:n.*255C>G | |
| ENST00000457572.5:c.*165C>G | ENSP00000407700.1:n.*165C>G | |
| ENST00000463785.1:n.189C>G | ||
| ENST00000479648.1:n.541C>G | ||
| ENST00000485175.5:n.681C>G | ||
| ENST00000486620.5:n.763C>G | ||
| NM_001282782.1:c.379C>G | NP_001269711.1:p.Pro127Ala | |
| NM_001282783.1:c.301C>G | NP_001269712.1:p.Pro101Ala | |
| NM_001282784.1:c.301C>G | NP_001269713.1:p.Pro101Ala | |
| NM_001282785.1:c.721C>G | NP_001269714.1:p.Pro241Ala | |
| NM_018006.4:c.721C>G | NP_060476.2:p.Pro241Ala | |
| NR_104240.1:n.1030C>G | ||
| NR_104241.1:n.923C>G | ||
| XM_005261678.1:c.325C>G | XP_005261735.1:p.Pro109Ala | |
| XM_005261681.1:c.325C>G | XP_005261738.1:p.Pro109Ala | |
| XM_011530271.1:c.616C>G | XP_011528573.1:p.Pro206Ala | |
| XM_011530272.1:c.721C>G | XP_011528574.1:p.Pro241Ala | |
| XM_011530273.1:c.721C>G | XP_011528575.1:p.Pro241Ala | |
| XM_011530274.1:c.379C>G | XP_011528576.1:p.Pro127Ala | |
| XM_011530275.1:c.325C>G | XP_011528577.1:p.Pro109Ala | |
| XM_011530271.2:c.616C>G | XP_011528573.1:p.Pro206Ala | |
| XM_011530272.2:c.721C>G | XP_011528574.1:p.Pro241Ala | |
| XM_011530273.2:c.721C>G | XP_011528575.1:p.Pro241Ala | |
| XM_011530274.2:c.379C>G | XP_011528576.1:p.Pro127Ala | |
| XM_024452260.1:c.616C>G | XP_024308028.1:p.Pro206Ala | |
| XR_001755261.2:n.767C>G | ||
| XR_001755262.2:n.767C>G | ||
| NM_018006.5:c.721C>G MANE Select | NP_060476.2:p.Pro241Ala | |
| NM_001282782.2:c.379C>G | NP_001269711.1:p.Pro127Ala | |
| NM_001282783.2:c.301C>G | NP_001269712.1:p.Pro101Ala | |
| NM_001282784.2:c.301C>G | NP_001269713.1:p.Pro101Ala | |
| NM_001282785.2:c.721C>G | NP_001269714.1:p.Pro241Ala | |
| NR_104240.2:n.717C>G | ||
| NR_104241.2:n.610C>G |