Linked Data
dbSNP Id:
rs748194563
ExAC:
21:35743004 G / A
gnomAD v2:
21-35743004-G-A
gnomAD v4:
21-34370705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370705G>A , CM000683.2:g.34370705G>A | GRCh38 |
| NC_000021.8:g.35743004G>A , CM000683.1:g.35743004G>A | GRCh37 |
| NC_000021.7:g.34664874G>A | NCBI36 |
| NG_008804.1:g.11682G>A , LRG_291:g.11682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.227G>A MANE Select | ENSP00000290310.2:p.Arg76Lys | |
| ENST00000290310.3:c.227G>A | ENSP00000290310.2:p.Arg76Lys | |
| NM_172201.1:c.227G>A , LRG_291t1:c.227G>A | NP_751951.1:p.Arg76Lys | |
| XR_937683.1:n.616C>T | ||
| XR_937684.1:n.616C>T | ||
| XR_001755012.2:n.737C>T | ||
| XR_001755013.2:n.616C>T | ||
| XR_937683.2:n.616C>T | ||
| NM_172201.2:c.227G>A MANE Select | NP_751951.1:p.Arg76Lys |