Linked Data
ClinVar Variation Id:
190794
ClinVar RCV Id:
RCV000170954
dbSNP Id:
rs368865412
ExAC:
21:35742824 G / A
gnomAD v2:
21-35742824-G-A
gnomAD v3:
21-34370525-G-A
gnomAD v4:
21-34370525-G-A
COSMIC:
COSM2844252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370525G>A , CM000683.2:g.34370525G>A | GRCh38 |
| NC_000021.8:g.35742824G>A , CM000683.1:g.35742824G>A | GRCh37 |
| NC_000021.7:g.34664694G>A | NCBI36 |
| NG_008804.1:g.11502G>A , LRG_291:g.11502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.47G>A MANE Select | ENSP00000290310.2:p.Arg16Gln | |
| ENST00000290310.3:c.47G>A | ENSP00000290310.2:p.Arg16Gln | |
| NM_172201.1:c.47G>A , LRG_291t1:c.47G>A | NP_751951.1:p.Arg16Gln | |
| XR_937683.1:n.796C>T | ||
| XR_937684.1:n.796C>T | ||
| XR_001755012.2:n.917C>T | ||
| XR_001755013.2:n.796C>T | ||
| XR_937683.2:n.796C>T | ||
| NM_172201.2:c.47G>A MANE Select | NP_751951.1:p.Arg16Gln |