Linked Data
dbSNP Id:
rs771699510
ExAC:
21:35743039 A / C
gnomAD v2:
21-35743039-A-C
gnomAD v4:
21-34370740-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370740A>C , CM000683.2:g.34370740A>C | GRCh38 |
| NC_000021.8:g.35743039A>C , CM000683.1:g.35743039A>C | GRCh37 |
| NC_000021.7:g.34664909A>C | NCBI36 |
| NG_008804.1:g.11717A>C , LRG_291:g.11717A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.262A>C MANE Select | ENSP00000290310.2:p.Ile88Leu | |
| ENST00000290310.3:c.262A>C | ENSP00000290310.2:p.Ile88Leu | |
| NM_172201.1:c.262A>C , LRG_291t1:c.262A>C | NP_751951.1:p.Ile88Leu | |
| XR_937683.1:n.581T>G | ||
| XR_937684.1:n.581T>G | ||
| XR_001755012.2:n.702T>G | ||
| XR_001755013.2:n.581T>G | ||
| XR_937683.2:n.581T>G | ||
| NM_172201.2:c.262A>C MANE Select | NP_751951.1:p.Ile88Leu |