Linked Data
gnomAD v4:
22-43946402-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946402C>G , CM000684.2:g.43946402C>G | GRCh38 |
| NC_000022.10:g.44342282C>G , CM000684.1:g.44342282C>G | GRCh37 |
| NC_000022.9:g.42673615C>G | NCBI36 |
| NG_008631.1:g.27664C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.*20C>G MANE Select | ENSP00000216180.3:n.*20C>G | |
| ENST00000216180.7:c.*20C>G | ENSP00000216180.3:n.*20C>G | |
| ENST00000406117.6:c.*849+1607C>G | ENSP00000384668.2:n.*849+1607C>G | |
| ENST00000423180.2:c.*20C>G | ENSP00000397987.2:n.*20C>G | |
| NM_025225.2:c.*20C>G | NP_079501.2:n.*20C>G | |
| NM_025225.3:c.*20C>G MANE Select | NP_079501.2:n.*20C>G |