Linked Data
dbSNP Id:
rs746016466
ExAC:
11:121177863 A / G
gnomAD v2:
11-121177863-A-G
gnomAD v4:
11-121307154-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307154A>G , CM000673.2:g.121307154A>G | GRCh38 |
| NC_000011.9:g.121177863A>G , CM000673.1:g.121177863A>G | GRCh37 |
| NC_000011.8:g.120683073A>G | NCBI36 |
| NG_009446.1:g.19476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.542A>G MANE Select | ENSP00000264027.4:p.His181Arg | |
| ENST00000264027.8:c.542A>G | ENSP00000264027.4:p.His181Arg | |
| ENST00000392789.2:c.542A>G | ENSP00000376539.2:p.His181Arg | |
| ENST00000527183.1:n.835A>G | ||
| ENST00000528991.1:n.235A>G | ||
| ENST00000534230.5:c.542A>G | ENSP00000432550.1:p.His181Arg | |
| NM_001024956.2:c.542A>G | NP_001020127.1:p.His181Arg | |
| NM_006918.4:c.542A>G | NP_008849.2:p.His181Arg | |
| NM_006918.5:c.542A>G MANE Select | NP_008849.2:p.His181Arg | |
| NM_001024956.3:c.542A>G | NP_001020127.1:p.His181Arg |