Linked Data
dbSNP Id:
rs1244071186
gnomAD v2:
11-121178046-A-G
gnomAD v3:
11-121307337-A-G
gnomAD v4:
11-121307337-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307337A>G , CM000673.2:g.121307337A>G | GRCh38 |
| NC_000011.9:g.121178046A>G , CM000673.1:g.121178046A>G | GRCh37 |
| NC_000011.8:g.120683256A>G | NCBI36 |
| NG_009446.1:g.19659A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.725A>G MANE Select | ENSP00000264027.4:p.Gln242Arg | |
| ENST00000264027.8:c.725A>G | ENSP00000264027.4:p.Gln242Arg | |
| ENST00000392789.2:c.725A>G | ENSP00000376539.2:p.Gln242Arg | |
| ENST00000527183.1:n.1018A>G | ||
| ENST00000534230.5:c.631+94A>G | ENSP00000432550.1:n.631+94A>G | |
| NM_001024956.2:c.725A>G | NP_001020127.1:p.Gln242Arg | |
| NM_006918.4:c.725A>G | NP_008849.2:p.Gln242Arg | |
| NM_006918.5:c.725A>G MANE Select | NP_008849.2:p.Gln242Arg | |
| NM_001024956.3:c.725A>G | NP_001020127.1:p.Gln242Arg |