Linked Data
ClinVar Variation Id:
3019666
ClinVar RCV Id:
RCV003874777
dbSNP Id:
rs2040516836
gnomAD v4:
21-44289717-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289717A>C , CM000683.2:g.44289717A>C | GRCh38 |
| NC_000021.8:g.45709600A>C , CM000683.1:g.45709600A>C | GRCh37 |
| NC_000021.7:g.44534028A>C | NCBI36 |
| NG_009556.1:g.8838A>C , LRG_18:g.8838A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.713A>C MANE Select | ENSP00000291582.5:p.Asp238Ala | |
| ENST00000291582.5:c.713A>C | ENSP00000291582.5:p.Asp238Ala | |
| ENST00000527919.5:n.1446A>C | ||
| ENST00000530812.5:n.2463A>C | ||
| NM_000383.3:c.713A>C | NP_000374.1:p.Asp238Ala | |
| XM_011529551.1:c.713A>C | XP_011527853.1:p.Asp238Ala | |
| NM_000383.4:c.713A>C MANE Select | NP_000374.1:p.Asp238Ala |