Linked Data
ClinVar Variation Id:
7588
dbSNP Id:
rs104894174
ExAC:
10:13325694 C / T
gnomAD v2:
10-13325694-C-T
gnomAD v3:
10-13283694-C-T
gnomAD v4:
10-13283694-C-T
COSMIC:
COSM4714200
PubMed:
PMID:10767344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283694C>T , CM000672.2:g.13283694C>T | GRCh38 |
| NC_000010.10:g.13325694C>T , CM000672.1:g.13325694C>T | GRCh37 |
| NC_000010.9:g.13365700C>T | NCBI36 |
| NG_012862.1:g.21437G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263038.9:c.824G>A MANE Select | ENSP00000263038.4:p.Arg275Gln | |
| ENST00000263038.8:c.824G>A | ENSP00000263038.4:p.Arg275Gln | |
| ENST00000396913.6:c.524G>A | ENSP00000380121.2:p.Arg175Gln | |
| ENST00000396920.7:c.773G>A | ENSP00000380126.3:p.Arg258Gln | |
| ENST00000453759.6:c.524G>A | ENSP00000412525.2:p.Arg175Gln | |
| NM_001037537.1:c.524G>A | NP_001032626.1:p.Arg175Gln | |
| NM_006214.3:c.824G>A | NP_006205.1:p.Arg275Gln | |
| XM_005252469.2:c.605G>A | XP_005252526.1:p.Arg202Gln | |
| NM_001323080.1:c.524G>A | NP_001310009.1:p.Arg175Gln | |
| NM_001323082.1:c.830G>A | NP_001310011.1:p.Arg277Gln | |
| NM_001323083.1:c.560G>A | NP_001310012.1:p.Arg187Gln | |
| NM_001323084.1:c.530G>A | NP_001310013.1:p.Arg177Gln | |
| NM_006214.4:c.824G>A MANE Select | NP_006205.1:p.Arg275Gln | |
| NM_001037537.2:c.524G>A | NP_001032626.1:p.Arg175Gln | |
| NM_001323080.2:c.524G>A | NP_001310009.1:p.Arg175Gln | |
| NM_001323082.2:c.830G>A | NP_001310011.1:p.Arg277Gln | |
| NM_001323083.2:c.560G>A | NP_001310012.1:p.Arg187Gln | |
| NM_001323084.2:c.530G>A | NP_001310013.1:p.Arg177Gln |