Linked Data
ClinVar Variation Id:
1896514
ClinVar RCV Id:
RCV002575794
dbSNP Id:
rs373383957
ExAC:
11:121177773 A / G
gnomAD v2:
11-121177773-A-G
gnomAD v3:
11-121307064-A-G
gnomAD v4:
11-121307064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307064A>G , CM000673.2:g.121307064A>G | GRCh38 |
| NC_000011.9:g.121177773A>G , CM000673.1:g.121177773A>G | GRCh37 |
| NC_000011.8:g.120682983A>G | NCBI36 |
| NG_009446.1:g.19386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.452A>G MANE Select | ENSP00000264027.4:p.His151Arg | |
| ENST00000264027.8:c.452A>G | ENSP00000264027.4:p.His151Arg | |
| ENST00000392789.2:c.452A>G | ENSP00000376539.2:p.His151Arg | |
| ENST00000527183.1:n.745A>G | ||
| ENST00000527762.5:c.473A>G | ENSP00000436290.1:p.His158Arg | |
| ENST00000528991.1:n.145A>G | ||
| ENST00000534230.5:c.452A>G | ENSP00000432550.1:p.His151Arg | |
| NM_001024956.2:c.452A>G | NP_001020127.1:p.His151Arg | |
| NM_006918.4:c.452A>G | NP_008849.2:p.His151Arg | |
| NM_006918.5:c.452A>G MANE Select | NP_008849.2:p.His151Arg | |
| NM_001024956.3:c.452A>G | NP_001020127.1:p.His151Arg |