Linked Data
ClinVar Variation Id:
67623
dbSNP Id:
rs148968498
ExAC:
21:35742857 G / A
gnomAD v2:
21-35742857-G-A
gnomAD v3:
21-34370558-G-A
gnomAD v4:
21-34370558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370558G>A , CM000683.2:g.34370558G>A | GRCh38 |
| NC_000021.8:g.35742857G>A , CM000683.1:g.35742857G>A | GRCh37 |
| NC_000021.7:g.34664727G>A | NCBI36 |
| NG_008804.1:g.11535G>A , LRG_291:g.11535G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.80G>A MANE Select | ENSP00000290310.2:p.Arg27His | |
| ENST00000290310.3:c.80G>A | ENSP00000290310.2:p.Arg27His | |
| NM_172201.1:c.80G>A , LRG_291t1:c.80G>A | NP_751951.1:p.Arg27His | |
| XR_937683.1:n.763C>T | ||
| XR_937684.1:n.763C>T | ||
| XR_001755012.2:n.884C>T | ||
| XR_001755013.2:n.763C>T | ||
| XR_937683.2:n.763C>T | ||
| NM_172201.2:c.80G>A MANE Select | NP_751951.1:p.Arg27His |