Linked Data
ClinVar Variation Id:
514647
ClinVar RCV Id:
RCV000603775
RCV001120096
RCV001120098
RCV001120097
RCV001120092
RCV001120093
RCV001120094
RCV001120095
dbSNP Id:
rs750036723
ExAC:
15:48707968 C / T
gnomAD v2:
15-48707968-C-T
gnomAD v4:
15-48415771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415771C>T , CM000677.2:g.48415771C>T | GRCh38 |
| NC_000015.9:g.48707968C>T , CM000677.1:g.48707968C>T | GRCh37 |
| NC_000015.8:g.46495260C>T | NCBI36 |
| NG_008805.2:g.235018G>A , LRG_778:g.235018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*628-4G>A | ENSP00000453958.2:n.*628-4G>A | |
| ENST00000674301.2:c.*1333-4G>A | ENSP00000501333.2:n.*1333-4G>A | |
| ENST00000682158.1:n.1197G>A | ||
| ENST00000682170.1:n.2001-4G>A | ||
| ENST00000682767.1:n.1117-4G>A | ||
| ENST00000316623.10:c.7820-4G>A MANE Select | ENSP00000325527.5:n.7820-4G>A | |
| ENST00000674301.1:c.2986-4G>A | ENSP00000501333.1:n.2986-4G>A | |
| ENST00000316623.9:c.7820-4G>A | ENSP00000325527.5:n.7820-4G>A | |
| ENST00000559133.5:c.3189-4G>A | ||
| ENST00000561429.1:n.75-4G>A | ||
| NM_000138.4:c.7820-4G>A , LRG_778t1:c.7820-4G>A | NP_000129.3:n.7820-4G>A | |
| NM_000138.5:c.7820-4G>A MANE Select | NP_000129.3:n.7820-4G>A |