Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97334207G>A , CM000672.2:g.97334207G>A | GRCh38 |
| NC_000010.10:g.99093964G>A , CM000672.1:g.99093964G>A | GRCh37 |
| NC_000010.9:g.99083954G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012083.3:c.366C>T MANE Select | NP_036215.1:p.Arg122= |
| ENST00000371019.4:c.366C>T MANE Select | ENSP00000360058.2:p.Arg122= |
| NM_012083.2:c.366C>T | NP_036215.1:p.Arg122= |
| ENST00000371019.3:c.366C>T | ENSP00000360058.2:p.Arg122= |