Linked Data
dbSNP Id:
rs1327684093
gnomAD v2:
21-35743028-A-AC
gnomAD v3:
21-34370729-A-AC
gnomAD v4:
21-34370729-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370731dup , CM000683.2:g.34370731dup | GRCh38 |
| NC_000021.8:g.35743030dup , CM000683.1:g.35743030dup | GRCh37 |
| NC_000021.7:g.34664900dup | NCBI36 |
| NG_008804.1:g.11708dup , LRG_291:g.11708dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.253dup MANE Select | ENSP00000290310.2:p.His85ProfsTer28 | |
| ENST00000290310.3:c.253dup | ENSP00000290310.2:p.His85ProfsTer28 | |
| NM_172201.1:c.253dup , LRG_291t1:c.253dup | NP_751951.1:p.His85ProfsTer28 | |
| XR_937683.1:n.591dup | ||
| XR_937684.1:n.591dup | ||
| XR_001755012.2:n.712dup | ||
| XR_001755013.2:n.591dup | ||
| XR_937683.2:n.591dup | ||
| NM_172201.2:c.253dup MANE Select | NP_751951.1:p.His85ProfsTer28 |