Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54758923A>G , CM000663.2:g.54758923A>G | GRCh38 |
| NC_000001.10:g.55224596A>G , CM000663.1:g.55224596A>G | GRCh37 |
| NC_000001.9:g.54997184A>G | NCBI36 |
| NG_042048.1:g.10631T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152268.4:c.239T>C MANE Select | NP_689481.2:p.Ile80Thr |
| ENST00000371279.4:c.239T>C MANE Select | ENSP00000360327.3:p.Ile80Thr |
| NM_152268.3:c.239T>C | NP_689481.2:p.Ile80Thr |
| ENST00000371279.3:c.239T>C | ENSP00000360327.3:p.Ile80Thr |
| XM_011541203.1:c.416T>C | XP_011539505.1:p.Ile139Thr |