Linked Data
ClinVar Variation Id:
36118
ClinVar RCV Id:
RCV000029780
RCV000083258
RCV000539171
RCV000788741
RCV001374808
RCV002399340
RCV003492302
RCV004532416
dbSNP Id:
rs147195031
ExAC:
15:48712977 G / A
gnomAD v2:
15-48712977-G-A
gnomAD v4:
15-48420780-G-A
PubMed:
PMID:23278365
ERepo:
CA017349/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420780G>A , CM000677.2:g.48420780G>A | GRCh38 |
| NC_000015.9:g.48712977G>A , CM000677.1:g.48712977G>A | GRCh37 |
| NC_000015.8:g.46500269G>A | NCBI36 |
| NG_008805.2:g.230009C>T , LRG_778:g.230009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*534C>T | ENSP00000453958.2:n.*534C>T | |
| ENST00000674301.2:c.*1239C>T | ENSP00000501333.2:n.*1239C>T | |
| ENST00000682170.1:n.1907C>T | ||
| ENST00000682767.1:n.1023C>T | ||
| ENST00000316623.10:c.7726C>T MANE Select | ENSP00000325527.5:p.Arg2576Cys | |
| ENST00000674301.1:c.2892C>T | ENSP00000501333.1:n.2892C>T | |
| ENST00000316623.9:c.7726C>T | ENSP00000325527.5:p.Arg2576Cys | |
| ENST00000559133.5:c.3095C>T | ||
| NM_000138.4:c.7726C>T , LRG_778t1:c.7726C>T | NP_000129.3:p.Arg2576Cys | |
| NM_000138.5:c.7726C>T MANE Select | NP_000129.3:p.Arg2576Cys |