Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46894787T>C , CM000673.2:g.46894787T>C | GRCh38 |
| NC_000011.9:g.46916338T>C , CM000673.1:g.46916338T>C | GRCh37 |
| NC_000011.8:g.46872914T>C | NCBI36 |
| NG_021394.1:g.28836A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.1342A>G MANE Select | NP_002325.2:p.Ile448Val |
| ENST00000378623.6:c.1342A>G MANE Select | ENSP00000367888.1:p.Ile448Val |
| NM_002334.3:c.1342A>G | NP_002325.2:p.Ile448Val |
| ENST00000378623.5:c.1342A>G | ENSP00000367888.1:p.Ile448Val |
| XM_011520102.1:c.1555A>G | XP_011518404.1:p.Ile519Val |
| XM_011520103.1:c.538A>G | XP_011518405.1:p.Ile180Val |
| XM_011520103.2:c.538A>G | XP_011518405.1:p.Ile180Val |
| XM_017017734.1:c.1342A>G | XP_016873223.1:p.Ile448Val |