Linked Data
ClinVar Variation Id:
12461
ClinVar RCV Id:
RCV002513007
dbSNP Id:
rs104894128
PubMed:
PMID:11738357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35685486T>G , CM000671.2:g.35685486T>G | GRCh38 |
| NC_000009.11:g.35685483T>G , CM000671.1:g.35685483T>G | GRCh37 |
| NC_000009.10:g.35675483T>G | NCBI36 |
| NG_011620.1:g.9572A>C , LRG_680:g.9572A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378292.9:c.440A>C | ENSP00000367542.3:p.Gln147Pro | |
| ENST00000643485.1:n.275A>C | ||
| ENST00000645482.3:c.440A>C MANE Select | ENSP00000496494.2:p.Gln147Pro | |
| ENST00000647435.1:c.440A>C | ENSP00000495440.1:p.Gln147Pro | |
| ENST00000329305.6:c.440A>C | ENSP00000367541.1:p.Gln147Pro | |
| ENST00000360958.6:c.440A>C | ENSP00000354219.2:p.Gln147Pro | |
| ENST00000378292.7:c.440A>C | ENSP00000367542.3:p.Gln147Pro | |
| ENST00000378300.9:c.440A>C | ENSP00000367550.5:p.Gln147Pro | |
| ENST00000471212.5:n.523A>C | ||
| ENST00000486018.1:n.58A>C | ||
| ENST00000604975.1:n.326A>C | ||
| NM_001301226.1:c.440A>C | NP_001288155.1:p.Gln147Pro | |
| NM_001301227.1:c.440A>C | NP_001288156.1:p.Gln147Pro | |
| NM_003289.3:c.440A>C , LRG_680t2:c.440A>C | NP_003280.2:p.Gln147Pro | |
| NM_213674.1:c.440A>C , LRG_680t1:c.440A>C | NP_998839.1:p.Gln147Pro | |
| XR_929320.1:n.548A>C | ||
| XR_929321.1:n.548A>C | ||
| XR_929322.1:n.548A>C | ||
| XR_929323.1:n.548A>C | ||
| XR_929324.1:n.551A>C | ||
| XR_929325.1:n.548A>C | ||
| XM_017015087.2:c.440A>C | XP_016870576.1:p.Gln147Pro | |
| XM_017015088.2:c.440A>C | XP_016870577.1:p.Gln147Pro | |
| XM_017015090.2:c.440A>C | XP_016870579.1:p.Gln147Pro | |
| XM_017015091.2:c.440A>C | XP_016870580.1:p.Gln147Pro | |
| XM_017015092.2:c.440A>C | XP_016870581.1:p.Gln147Pro | |
| XM_017015093.2:c.440A>C | XP_016870582.1:p.Gln147Pro | |
| NM_001301226.2:c.440A>C | NP_001288155.1:p.Gln147Pro | |
| NM_003289.4:c.440A>C MANE Select | NP_003280.2:p.Gln147Pro | |
| NM_001301227.2:c.440A>C | NP_001288156.1:p.Gln147Pro |