Linked Data
ClinVar Variation Id:
2926639
ClinVar RCV Id:
RCV003788877
dbSNP Id:
rs746894379
ExAC:
15:48784643 G / A
gnomAD v2:
15-48784643-G-A
gnomAD v4:
15-48492446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48492446G>A , CM000677.2:g.48492446G>A | GRCh38 |
| NC_000015.9:g.48784643G>A , CM000677.1:g.48784643G>A | GRCh37 |
| NC_000015.8:g.46571935G>A | NCBI36 |
| NG_008805.2:g.158343C>T , LRG_778:g.158343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2854+15C>T | ENSP00000453958.2:n.2854+15C>T | |
| ENST00000674301.2:c.2854+15C>T | ENSP00000501333.2:n.2854+15C>T | |
| ENST00000684448.1:n.1528+15C>T | ||
| ENST00000316623.10:c.2854+15C>T MANE Select | ENSP00000325527.5:n.2854+15C>T | |
| ENST00000316623.9:c.2854+15C>T | ENSP00000325527.5:n.2854+15C>T | |
| ENST00000537463.6:c.637-17796C>T | ENSP00000440294.2:n.637-17796C>T | |
| NM_000138.4:c.2854+15C>T , LRG_778t1:c.2854+15C>T | NP_000129.3:n.2854+15C>T | |
| NM_000138.5:c.2854+15C>T MANE Select | NP_000129.3:n.2854+15C>T |