Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44343499A>G , CM000682.2:g.44343499A>G | GRCh38 |
| NC_000020.10:g.42972139A>G , CM000682.1:g.42972139A>G | GRCh37 |
| NC_000020.9:g.42405553A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178491.4:c.503A>G MANE Select | NP_848586.1:p.His168Arg |
| ENST00000217043.4:c.503A>G MANE Select | ENSP00000217043.3:p.His168Arg |
| NM_178491.3:c.503A>G | NP_848586.1:p.His168Arg |
| ENST00000217043.2:c.503A>G | ENSP00000217043.2:p.His168Arg |