Linked Data
ClinVar Variation Id:
432231
ClinVar RCV Id:
RCV000497600
RCV000527914
RCV002225107
RCV002298627
RCV002376908
RCV003150244
RCV003925434
dbSNP Id:
rs532143625
ExAC:
7:128478037 A / G
gnomAD v2:
7-128478037-A-G
gnomAD v3:
7-128837983-A-G
gnomAD v4:
7-128837983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128837983A>G , CM000669.2:g.128837983A>G | GRCh38 |
| NC_000007.13:g.128478037A>G , CM000669.1:g.128478037A>G | GRCh37 |
| NC_000007.12:g.128265273A>G | NCBI36 |
| NG_011807.1:g.12555A>G , LRG_870:g.12555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.970-4A>G MANE Select | ENSP00000327145.8:n.970-4A>G | |
| ENST00000325888.12:c.970-4A>G | ENSP00000327145.8:n.970-4A>G | |
| ENST00000346177.6:c.970-4A>G | ENSP00000344002.6:n.970-4A>G | |
| NM_001127487.1:c.970-4A>G | NP_001120959.1:n.970-4A>G | |
| NM_001458.4:c.970-4A>G , LRG_870t1:c.970-4A>G | NP_001449.3:n.970-4A>G | |
| NM_001127487.2:c.970-4A>G | NP_001120959.1:n.970-4A>G | |
| NM_001458.5:c.970-4A>G MANE Select | NP_001449.3:n.970-4A>G |