Linked Data
ClinVar Variation Id:
8690
dbSNP Id:
rs1566734
ExAC:
11:48145375 A / C
gnomAD v2:
11-48145375-A-C
gnomAD v3:
11-48123823-A-C
gnomAD v4:
11-48123823-A-C
PubMed:
PMID:12089527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123823A>C , CM000673.2:g.48123823A>C | GRCh38 |
| NC_000011.9:g.48145375A>C , CM000673.1:g.48145375A>C | GRCh37 |
| NC_000011.8:g.48101951A>C | NCBI36 |
| NG_012209.1:g.148266A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698881.1:c.1169A>C | ENSP00000514003.1:p.Gln390Pro | |
| ENST00000418331.7:c.827A>C MANE Select | ENSP00000400010.2:p.Gln276Pro | |
| ENST00000418331.6:c.827A>C | ENSP00000400010.2:p.Gln276Pro | |
| ENST00000440289.6:c.827A>C | ENSP00000409733.2:p.Gln276Pro | |
| ENST00000613246.4:c.827A>C | ENSP00000477933.1:p.Gln276Pro | |
| ENST00000615445.4:c.827A>C | ENSP00000479342.1:p.Gln276Pro | |
| NM_001098503.1:c.827A>C | NP_001091973.1:p.Gln276Pro | |
| NM_002843.3:c.827A>C | NP_002834.3:p.Gln276Pro | |
| XM_011520249.1:c.860A>C | XP_011518551.1:p.Gln287Pro | |
| XR_930883.1:n.1177A>C | ||
| XM_017018083.1:c.905A>C | XP_016873572.1:p.Gln302Pro | |
| XM_017018084.1:c.848A>C | XP_016873573.1:p.Gln283Pro | |
| XM_017018085.1:c.779A>C | XP_016873574.1:p.Gln260Pro | |
| XR_930883.2:n.1236A>C | ||
| NM_002843.4:c.827A>C MANE Select | NP_002834.3:p.Gln276Pro | |
| NM_001098503.2:c.827A>C | NP_001091973.1:p.Gln276Pro |