Linked Data
ClinVar Variation Id:
1172865
dbSNP Id:
rs74315449
gnomAD v2:
21-35742856-C-A
gnomAD v4:
21-34370557-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370557C>A , CM000683.2:g.34370557C>A | GRCh38 |
| NC_000021.8:g.35742856C>A , CM000683.1:g.35742856C>A | GRCh37 |
| NC_000021.7:g.34664726C>A | NCBI36 |
| NG_008804.1:g.11534C>A , LRG_291:g.11534C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.79C>A MANE Select | ENSP00000290310.2:p.Arg27Ser | |
| ENST00000290310.3:c.79C>A | ENSP00000290310.2:p.Arg27Ser | |
| NM_172201.1:c.79C>A , LRG_291t1:c.79C>A | NP_751951.1:p.Arg27Ser | |
| XR_937683.1:n.764G>T | ||
| XR_937684.1:n.764G>T | ||
| XR_001755012.2:n.885G>T | ||
| XR_001755013.2:n.764G>T | ||
| XR_937683.2:n.764G>T | ||
| NM_172201.2:c.79C>A MANE Select | NP_751951.1:p.Arg27Ser |