Linked Data
ClinVar Variation Id:
7587
dbSNP Id:
rs104894173
ExAC:
10:13330428 C / T
gnomAD v2:
10-13330428-C-T
gnomAD v3:
10-13288428-C-T
gnomAD v4:
10-13288428-C-T
COSMIC:
COSM916259
MyVariant Identifiers:
chr10:g.13330428C>T (hg19)
chr10:g.13330428_13330431delinsTGTT (hg19)
chr10:g.13288428C>T (hg38)
PubMed:
PMID:10767344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13288428C>T , CM000672.2:g.13288428C>T | GRCh38 |
| NC_000010.10:g.13330428C>T , CM000672.1:g.13330428C>T | GRCh37 |
| NC_000010.9:g.13370434C>T | NCBI36 |
| NG_012862.1:g.16703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.610G>A MANE Select | ENSP00000263038.4:p.Gly204Ser | |
| ENST00000263038.8:c.610G>A | ENSP00000263038.4:p.Gly204Ser | |
| ENST00000396913.6:c.310G>A | ENSP00000380121.2:p.Gly104Ser | |
| ENST00000396920.7:c.559G>A | ENSP00000380126.3:p.Gly187Ser | |
| ENST00000453759.6:c.310G>A | ENSP00000412525.2:p.Gly104Ser | |
| ENST00000479604.1:c.616G>A | ENSP00000420117.1:p.Gly206Ser | |
| NM_001037537.1:c.310G>A | NP_001032626.1:p.Gly104Ser | |
| NM_006214.3:c.610G>A | NP_006205.1:p.Gly204Ser | |
| XM_005252469.2:c.460-4589G>A | XP_005252526.1:n.460-4589G>A | |
| NM_001323080.1:c.310G>A | NP_001310009.1:p.Gly104Ser | |
| NM_001323082.1:c.616G>A | NP_001310011.1:p.Gly206Ser | |
| NM_001323083.1:c.415-4589G>A | NP_001310012.1:n.415-4589G>A | |
| NM_001323084.1:c.316G>A | NP_001310013.1:p.Gly106Ser | |
| NM_006214.4:c.610G>A MANE Select | NP_006205.1:p.Gly204Ser | |
| NM_001037537.2:c.310G>A | NP_001032626.1:p.Gly104Ser | |
| NM_001323080.2:c.310G>A | NP_001310009.1:p.Gly104Ser | |
| NM_001323082.2:c.616G>A | NP_001310011.1:p.Gly206Ser | |
| NM_001323083.2:c.415-4589G>A | NP_001310012.1:n.415-4589G>A | |
| NM_001323084.2:c.316G>A | NP_001310013.1:p.Gly106Ser |