Linked Data
dbSNP Id:
rs757707761
ExAC:
21:45194177 C / T
gnomAD v2:
21-45194177-C-T
gnomAD v4:
21-43774296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774296C>T , CM000683.2:g.43774296C>T | GRCh38 |
| NC_000021.8:g.45194177C>T , CM000683.1:g.45194177C>T | GRCh37 |
| NC_000021.7:g.44018605C>T | NCBI36 |
| NG_011545.1:g.7083G>A , LRG_485:g.7083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.203G>A MANE Select | ENSP00000291568.6:p.Arg68Gln | |
| ENST00000480147.3:n.1973G>A | ||
| ENST00000639959.1:c.70G>A | ||
| ENST00000640406.1:c.*278G>A | ENSP00000492672.1:n.*278G>A | |
| ENST00000675996.1:n.628G>A | ||
| ENST00000291568.5:c.203G>A | ENSP00000291568.5:p.Arg68Gln | |
| ENST00000480147.1:n.567G>A | ||
| NM_000100.3:c.203G>A , LRG_485t1:c.203G>A | NP_000091.1:p.Arg68Gln | |
| NM_000100.4:c.203G>A MANE Select | NP_000091.1:p.Arg68Gln |