Linked Data
ClinVar Variation Id:
316350
ClinVar RCV Id:
RCV000268385
RCV000291233
RCV000317726
RCV000321623
RCV000325148
RCV000381899
RCV000383236
dbSNP Id:
rs55717426
gnomAD v3:
15-48410226-C-T
gnomAD v4:
15-48410226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410226C>T , CM000677.2:g.48410226C>T | GRCh38 |
| NC_000015.9:g.48702423C>T , CM000677.1:g.48702423C>T | GRCh37 |
| NC_000015.8:g.46489715C>T | NCBI36 |
| NG_008805.2:g.240563G>A , LRG_778:g.240563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*2188G>A | ENSP00000453958.2:n.*2188G>A | |
| ENST00000682158.1:n.2761G>A | ||
| ENST00000682170.1:n.3561G>A | ||
| ENST00000682767.1:n.2677G>A | ||
| ENST00000316623.10:c.*764G>A MANE Select | ENSP00000325527.5:n.*764G>A | |
| ENST00000316623.9:c.*764G>A | ENSP00000325527.5:n.*764G>A | |
| ENST00000559133.5:c.4749G>A | ||
| NM_000138.4:c.*764G>A , LRG_778t1:c.*764G>A | NP_000129.3:n.*764G>A | |
| NM_000138.5:c.*764G>A MANE Select | NP_000129.3:n.*764G>A |