Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236597945A>G , CM000663.2:g.236597945A>G | GRCh38 |
| NC_000001.10:g.236761245A>G , CM000663.1:g.236761245A>G | GRCh37 |
| NC_000001.9:g.234827868A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018072.6:c.536T>C MANE Select | NP_060542.4:p.Ile179Thr |
| ENST00000366582.8:c.536T>C MANE Select | ENSP00000355541.3:p.Ile179Thr |
| NM_018072.5:c.536T>C | NP_060542.4:p.Ile179Thr |
| ENST00000366581.6:c.536T>C | ENSP00000355540.2:p.Ile179Thr |
| ENST00000366582.7:c.536T>C | ENSP00000355541.3:p.Ile179Thr |
| ENST00000483073.1:n.173T>C | |
| XM_011544219.1:c.536T>C | XP_011542521.1:p.Ile179Thr |