Linked Data
dbSNP Id:
rs761420303
ExAC:
21:35743164 A / G
gnomAD v2:
21-35743164-A-G
gnomAD v4:
21-34370865-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370865A>G , CM000683.2:g.34370865A>G | GRCh38 |
| NC_000021.8:g.35743164A>G , CM000683.1:g.35743164A>G | GRCh37 |
| NC_000021.7:g.34665034A>G | NCBI36 |
| NG_008804.1:g.11842A>G , LRG_291:g.11842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.*15A>G MANE Select | ENSP00000290310.2:n.*15A>G | |
| ENST00000290310.3:c.*15A>G | ENSP00000290310.2:n.*15A>G | |
| NM_172201.1:c.*15A>G , LRG_291t1:c.*15A>G | NP_751951.1:n.*15A>G | |
| XR_937683.1:n.456T>C | ||
| XR_937684.1:n.456T>C | ||
| XR_001755012.2:n.577T>C | ||
| XR_001755013.2:n.456T>C | ||
| XR_937683.2:n.456T>C | ||
| NM_172201.2:c.*15A>G MANE Select | NP_751951.1:n.*15A>G |