Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940052T>C , CM000678.2:g.67940052T>C | GRCh38 |
| NC_000016.9:g.67973955T>C , CM000678.1:g.67973955T>C | GRCh37 |
| NC_000016.8:g.66531456T>C | NCBI36 |
| NG_009778.1:g.9061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1175A>G MANE Select | ENSP00000264005.5:p.His392Arg | |
| ENST00000264005.9:c.1175A>G | ENSP00000264005.5:p.His392Arg | |
| ENST00000570369.5:c.178A>G | ||
| ENST00000573538.5:c.913A>G | ENSP00000463220.1:n.913A>G | |
| NM_000229.1:c.1175A>G | NP_000220.1:p.His392Arg | |
| NM_000229.2:c.1175A>G MANE Select | NP_000220.1:p.His392Arg |