Linked Data
ClinVar Variation Id:
4725
dbSNP Id:
rs267606651
ExAC:
16:5131010 A / C
gnomAD v2:
16-5131010-A-C
gnomAD v4:
16-5081009-A-C
PubMed:
PMID:14973782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5081009A>C , CM000678.2:g.5081009A>C | GRCh38 |
| NC_000016.9:g.5131010A>C , CM000678.1:g.5131010A>C | GRCh37 |
| NC_000016.8:g.5071011A>C | NCBI36 |
| NG_009202.1:g.14201A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3161A>C | ||
| ENST00000682020.1:c.431A>C | ENSP00000508075.1:p.Gln144Pro | |
| ENST00000682206.1:c.*117A>C | ENSP00000508285.1:n.*117A>C | |
| ENST00000682314.1:n.1073A>C | ||
| ENST00000682327.1:c.497A>C | ENSP00000507058.1:p.Gln166Pro | |
| ENST00000682349.1:n.3167A>C | ||
| ENST00000682703.1:n.3993A>C | ||
| ENST00000682797.1:c.*117A>C | ENSP00000507582.1:n.*117A>C | |
| ENST00000682985.1:c.536A>C | ENSP00000507598.1:p.Gln179Pro | |
| ENST00000683433.1:c.281A>C | ENSP00000507463.1:p.Gln94Pro | |
| ENST00000683685.1:n.1899A>C | ||
| ENST00000683710.1:c.*992A>C | ENSP00000506785.1:n.*992A>C | |
| ENST00000683739.1:c.692A>C | ENSP00000507002.1:p.Gln231Pro | |
| ENST00000683772.1:n.1069A>C | ||
| ENST00000684008.1:c.963A>C | ENSP00000507962.1:n.963A>C | |
| ENST00000684190.1:c.986A>C | ENSP00000507554.1:p.Gln329Pro | |
| ENST00000684335.1:c.961+1202A>C | ENSP00000508112.1:n.961+1202A>C | |
| ENST00000262374.10:c.1025A>C MANE Select | ENSP00000262374.5:p.Gln342Pro | |
| ENST00000650085.1:n.1849A>C | ||
| ENST00000262374.9:c.1025A>C | ENSP00000262374.4:p.Gln342Pro | |
| ENST00000544428.1:c.692A>C | ENSP00000440019.1:p.Gln231Pro | |
| ENST00000588623.5:c.692A>C | ENSP00000468118.1:p.Gln231Pro | |
| ENST00000591822.5:c.*926A>C | ENSP00000467865.1:n.*926A>C | |
| NM_019109.4:c.1025A>C | NP_061982.3:p.Gln342Pro | |
| XM_011522565.1:c.692A>C | XP_011520867.1:p.Gln231Pro | |
| NM_001330504.1:c.692A>C | NP_001317433.1:p.Gln231Pro | |
| XM_017023457.2:c.986A>C | XP_016878946.1:p.Gln329Pro | |
| XM_017023458.1:c.692A>C | XP_016878947.1:p.Gln231Pro | |
| XR_932882.3:n.1054A>C | ||
| NM_019109.5:c.1025A>C MANE Select | NP_061982.3:p.Gln342Pro | |
| NM_001330504.2:c.692A>C | NP_001317433.1:p.Gln231Pro |