Linked Data
ClinVar Variation Id:
478123
ClinVar RCV Id:
RCV001379592
dbSNP Id:
rs111452612
gnomAD v4:
7-128840675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840675G>A , CM000669.2:g.128840675G>A | GRCh38 |
| NC_000007.13:g.128480729G>A , CM000669.1:g.128480729G>A | GRCh37 |
| NC_000007.12:g.128267965G>A | NCBI36 |
| NG_011807.1:g.15247G>A , LRG_870:g.15247G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.1676+1G>A MANE Select | ENSP00000327145.8:n.1676+1G>A | |
| ENST00000325888.12:c.1676+1G>A | ENSP00000327145.8:n.1676+1G>A | |
| ENST00000346177.6:c.1676+1G>A | ENSP00000344002.6:n.1676+1G>A | |
| NM_001127487.1:c.1676+1G>A | NP_001120959.1:n.1676+1G>A | |
| NM_001458.4:c.1676+1G>A , LRG_870t1:c.1676+1G>A | NP_001449.3:n.1676+1G>A | |
| NM_001127487.2:c.1676+1G>A | NP_001120959.1:n.1676+1G>A | |
| NM_001458.5:c.1676+1G>A MANE Select | NP_001449.3:n.1676+1G>A |