Linked Data
gnomAD v4:
22-43946204-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946204A>G , CM000684.2:g.43946204A>G | GRCh38 |
| NC_000022.10:g.44342084A>G , CM000684.1:g.44342084A>G | GRCh37 |
| NC_000022.9:g.42673417A>G | NCBI36 |
| NG_008631.1:g.27466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1268A>G MANE Select | ENSP00000216180.3:p.Gln423Arg | |
| ENST00000216180.7:c.1268A>G | ENSP00000216180.3:p.Gln423Arg | |
| ENST00000406117.6:c.*849+1409A>G | ENSP00000384668.2:n.*849+1409A>G | |
| ENST00000423180.2:c.1256A>G | ENSP00000397987.2:p.Gln419Arg | |
| NM_025225.2:c.1268A>G | NP_079501.2:p.Gln423Arg | |
| NM_025225.3:c.1268A>G MANE Select | NP_079501.2:p.Gln423Arg |