Linked Data
ClinVar Variation Id:
1485806
ClinVar RCV Id:
RCV002001009
dbSNP Id:
rs143668140
ExAC:
11:124507034 T / C
gnomAD v2:
11-124507034-T-C
gnomAD v3:
11-124637138-T-C
gnomAD v4:
11-124637138-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124637138T>C , CM000673.2:g.124637138T>C | GRCh38 |
| NC_000011.9:g.124507034T>C , CM000673.1:g.124507034T>C | GRCh37 |
| NC_000011.8:g.124012244T>C | NCBI36 |
| NG_028132.1:g.44166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1385A>G MANE Select | ENSP00000263593.3:p.Gln462Arg | |
| ENST00000263593.7:c.1385A>G | ENSP00000263593.3:p.Gln462Arg | |
| ENST00000545756.5:c.1280A>G | ENSP00000437877.1:p.Gln427Arg | |
| ENST00000618733.4:c.1280A>G | ENSP00000478211.1:p.Gln427Arg | |
| NM_001199922.1:c.1280A>G | NP_001186851.1:p.Gln427Arg | |
| NM_170601.4:c.1385A>G | NP_733746.1:p.Gln462Arg | |
| XM_011542874.1:c.812A>G | XP_011541176.1:p.Gln271Arg | |
| XM_017017930.1:c.812A>G | XP_016873419.1:p.Gln271Arg | |
| NM_170601.5:c.1385A>G MANE Select | NP_733746.1:p.Gln462Arg | |
| NM_001199922.2:c.1280A>G | NP_001186851.1:p.Gln427Arg |