Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97334326C>T , CM000672.2:g.97334326C>T | GRCh38 |
| NC_000010.10:g.99094083C>T , CM000672.1:g.99094083C>T | GRCh37 |
| NC_000010.9:g.99084073C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012083.3:c.247G>A MANE Select | NP_036215.1:p.Ala83Thr |
| ENST00000371019.4:c.247G>A MANE Select | ENSP00000360058.2:p.Ala83Thr |
| NM_012083.2:c.247G>A | NP_036215.1:p.Ala83Thr |
| ENST00000371019.3:c.247G>A | ENSP00000360058.2:p.Ala83Thr |