Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27307586G>A , CM000664.2:g.27307586G>A | GRCh38 |
| NC_000002.11:g.27530454G>A , CM000664.1:g.27530454G>A | GRCh37 |
| NC_000002.10:g.27383958G>A | NCBI36 |
| NG_008075.1:g.19978C>T | |
| NG_033055.1:g.5677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296099.2:c.310C>T MANE Select | ENSP00000296099.2:p.Arg104Trp | |
| NM_003353.2:c.310C>T | NP_003344.1:p.Arg104Trp | |
| NM_003353.3:c.310C>T | NP_003344.1:p.Arg104Trp | |
| NM_003353.4:c.310C>T MANE Select | NP_003344.1:p.Arg104Trp |