Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106036712A>G , CM000685.2:g.106036712A>G | GRCh38 |
| NC_000023.10:g.105280703A>G , CM000685.1:g.105280703A>G | GRCh37 |
| NC_000023.9:g.105167359A>G | NCBI36 |
| NG_021252.1:g.7016T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000354.6:c.347T>C MANE Select | NP_000345.2:p.Ile116Thr |
| ENST00000372563.2:c.347T>C MANE Select | ENSP00000361644.1:p.Ile116Thr |
| NM_000354.5:c.347T>C | NP_000345.2:p.Ile116Thr |
| ENST00000327674.8:c.347T>C | ENSP00000329374.4:p.Ile116Thr |
| ENST00000372563.1:c.347T>C | ENSP00000361644.1:p.Ile116Thr |
| XM_005262180.3:c.347T>C | XP_005262237.1:p.Ile116Thr |
| XM_005262180.4:c.347T>C | XP_005262237.1:p.Ile116Thr |
| XM_006724683.1:c.347T>C | XP_006724746.1:p.Ile116Thr |
| XM_006724683.2:c.347T>C | XP_006724746.1:p.Ile116Thr |