Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33680127C>G , CM000668.2:g.33680127C>G | GRCh38 |
| NC_000006.11:g.33647904C>G , CM000668.1:g.33647904C>G | GRCh37 |
| NC_000006.10:g.33755882C>G | NCBI36 |
| NG_027729.1:g.63749C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.4218C>G MANE Select | NP_002215.2:p.Ile1406Met |
| ENST00000605930.3:c.4218C>G MANE Select | ENSP00000475177.1:p.Ile1406Met |
| NM_002224.3:c.4218C>G | NP_002215.2:p.Ile1406Met |
| ENST00000374316.9:c.4218C>G | ENSP00000363435.4:p.Ile1406Met |
| ENST00000605930.2:c.4218C>G | ENSP00000475177.1:p.Ile1406Met |
| XM_011514576.1:c.4287C>G | XP_011512878.1:p.Ile1429Met |
| XM_011514577.1:c.4035C>G | XP_011512879.1:p.Ile1345Met |
| XM_011514577.3:c.4035C>G | XP_011512879.1:p.Ile1345Met |