Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21594710T>G , CM000668.2:g.21594710T>G | GRCh38 |
| NC_000006.11:g.21594941T>G , CM000668.1:g.21594941T>G | GRCh37 |
| NC_000006.10:g.21702920T>G | NCBI36 |
| NG_029166.1:g.5970T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.176T>G MANE Select | NP_003098.1:p.Ile59Ser |
| ENST00000244745.4:c.176T>G MANE Select | ENSP00000244745.1:p.Ile59Ser |
| NM_003107.2:c.176T>G | NP_003098.1:p.Ile59Ser |
| ENST00000244745.2:c.176T>G | ENSP00000244745.1:p.Ile59Ser |