Linked Data
ClinVar Variation Id:
3019148
ClinVar RCV Id:
RCV003871779
dbSNP Id:
rs773215910
gnomAD v4:
9-130872871-C-A
MyVariant Identifiers:
chr9:g.133748258C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872871C>A , CM000671.2:g.130872871C>A | GRCh38 |
| NC_000009.11:g.133748258C>A , CM000671.1:g.133748258C>A | GRCh37 |
| NC_000009.10:g.132738079C>A | NCBI36 |
| NG_012034.1:g.163991C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.976C>A | ENSP00000361423.2:p.Arg326= | |
| ENST00000318560.6:c.919C>A MANE Select | ENSP00000323315.5:p.Arg307= | |
| ENST00000372348.7:c.976C>A | ENSP00000361423.2:p.Arg326= | |
| ENST00000318560.5:c.919C>A | ENSP00000323315.5:p.Arg307= | |
| ENST00000372348.6:c.976C>A | ENSP00000361423.2:p.Arg326= | |
| NM_005157.5:c.919C>A | NP_005148.2:p.Arg307= | |
| NM_007313.2:c.976C>A | NP_009297.2:p.Arg326= | |
| NM_005157.6:c.919C>A MANE Select | NP_005148.2:p.Arg307= | |
| NM_007313.3:c.976C>A | NP_009297.2:p.Arg326= |