Linked Data
ClinVar Variation Id:
5631
ClinVar RCV Id:
RCV000005985
dbSNP Id:
rs111033608
gnomAD v2:
17-73754172-G-A
gnomAD v3:
17-75758091-G-A
gnomAD v4:
17-75758091-G-A
PubMed:
PMID:10790206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75758091G>A , CM000679.2:g.75758091G>A | GRCh38 |
| NC_000017.10:g.73754172G>A , CM000679.1:g.73754172G>A | GRCh37 |
| NC_000017.9:g.71265767G>A | NCBI36 |
| NG_007372.1:g.41657G>A | |
| NG_008079.1:g.12109C>T | |
| NG_008079.2:g.12109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592997.6:c.1054C>T | ENSP00000464765.2:p.Gln352Ter | |
| ENST00000588479.6:c.1144C>T MANE Select | ENSP00000465930.1:p.Gln382Ter | |
| ENST00000225614.6:c.1144C>T | ENSP00000225614.1:p.Gln382Ter | |
| ENST00000586733.1:n.346C>T | ||
| ENST00000588479.5:c.1144C>T | ENSP00000465930.1:p.Gln382Ter | |
| ENST00000589643.1:n.197C>T | ||
| ENST00000592997.5:c.520C>T | ENSP00000464765.1:p.Gln174Ter | |
| NM_000154.1:c.1144C>T | NP_000145.1:p.Gln382Ter | |
| NM_000154.2:c.1144C>T MANE Select | NP_000145.1:p.Gln382Ter | |
| NM_001381985.1:c.1144C>T | NP_001368914.1:p.Gln382Ter |