Linked Data
ClinVar Variation Id:
539418
dbSNP Id:
rs1554398369
gnomAD v4:
7-128841290-A-C
COSMIC:
COSM5976216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128841290A>C , CM000669.2:g.128841290A>C | GRCh38 |
| NC_000007.13:g.128481344A>C , CM000669.1:g.128481344A>C | GRCh37 |
| NC_000007.12:g.128268580A>C | NCBI36 |
| NG_011807.1:g.15862A>C , LRG_870:g.15862A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.1934A>C MANE Select | ENSP00000327145.8:p.Asp645Ala | |
| ENST00000325888.12:c.1934A>C | ENSP00000327145.8:p.Asp645Ala | |
| ENST00000346177.6:c.1934A>C | ENSP00000344002.6:p.Asp645Ala | |
| NM_001127487.1:c.1934A>C | NP_001120959.1:p.Asp645Ala | |
| NM_001458.4:c.1934A>C , LRG_870t1:c.1934A>C | NP_001449.3:p.Asp645Ala | |
| NM_001127487.2:c.1934A>C | NP_001120959.1:p.Asp645Ala | |
| NM_001458.5:c.1934A>C MANE Select | NP_001449.3:p.Asp645Ala |