Linked Data
ClinVar Variation Id:
539386
ClinVar RCV Id:
RCV000649114
dbSNP Id:
rs1554398094
gnomAD v4:
7-128840128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840128G>A , CM000669.2:g.128840128G>A | GRCh38 |
| NC_000007.13:g.128480182G>A , CM000669.1:g.128480182G>A | GRCh37 |
| NC_000007.12:g.128267418G>A | NCBI36 |
| NG_011807.1:g.14700G>A , LRG_870:g.14700G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.1517G>A MANE Select | ENSP00000327145.8:p.Ser506Asn | |
| ENST00000325888.12:c.1517G>A | ENSP00000327145.8:p.Ser506Asn | |
| ENST00000346177.6:c.1517G>A | ENSP00000344002.6:p.Ser506Asn | |
| NM_001127487.1:c.1517G>A | NP_001120959.1:p.Ser506Asn | |
| NM_001458.4:c.1517G>A , LRG_870t1:c.1517G>A | NP_001449.3:p.Ser506Asn | |
| NM_001127487.2:c.1517G>A | NP_001120959.1:p.Ser506Asn | |
| NM_001458.5:c.1517G>A MANE Select | NP_001449.3:p.Ser506Asn |