Linked Data
ClinVar Variation Id:
476799
ClinVar RCV Id:
RCV000551763
dbSNP Id:
rs1036590547
gnomAD v2:
19-50335349-G-A
gnomAD v3:
19-49832092-G-A
gnomAD v4:
19-49832092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49832092G>A , CM000681.2:g.49832092G>A | GRCh38 |
| NC_000019.9:g.50335349G>A , CM000681.1:g.50335349G>A | GRCh37 |
| NC_000019.8:g.55027161G>A | NCBI36 |
| NG_017091.1:g.18814G>A , LRG_368:g.18814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.1317-8G>A (MED25) | ENSP00000470692.3:n.1317-8G>A | |
| ENST00000312865.10:c.1317-8G>A (MED25) MANE Select | ENSP00000326767.5:n.1317-8G>A | |
| ENST00000538643.5:c.678-8G>A (MED25) | ENSP00000437496.1:n.678-8G>A | |
| ENST00000595185.5:c.688+2144G>A (MED25) | ENSP00000470027.1:n.688+2144G>A | |
| ENST00000599722.1:n.331G>A (MED25) | ||
| ENST00000612791.4:c.761+1930G>A (MED25) | ENSP00000479851.1:n.761+1930G>A | |
| ENST00000612854.4:c.450+3077G>A (MED25) | ENSP00000482155.1:n.450+3077G>A | |
| ENST00000617849.4:c.522-8G>A (MED25) | ENSP00000484882.1:n.522-8G>A | |
| ENST00000618715.4:c.522-8G>A (MED25) | ENSP00000480731.1:n.522-8G>A | |
| ENST00000620467.4:c.972+1334G>A (MED25) | ENSP00000482659.1:n.972+1334G>A | |
| ENST00000622402.4:c.146-3735G>A (MED25) | ENSP00000478074.1:n.146-3735G>A | |
| NM_030973.3:c.1317-8G>A , LRG_368t1:c.1317-8G>A (MED25) | NP_112235.2:n.1317-8G>A | |
| NR_106858.1:n.75G>A (MIR6800) | ||
| XM_011527353.1:c.1317-8G>A (MED25) | XP_011525655.1:n.1317-8G>A | |
| NM_001378355.1:c.1317-8G>A (MED25) | NP_001365284.1:n.1317-8G>A | |
| NM_030973.4:c.1317-8G>A (MED25) MANE Select | NP_112235.2:n.1317-8G>A |