Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021345A>G , CM000663.2:g.94021345A>G | GRCh38 |
| NC_000001.10:g.94486901A>G , CM000663.1:g.94486901A>G | GRCh37 |
| NC_000001.9:g.94259489A>G | NCBI36 |
| NG_009073.1:g.104805T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4913T>C MANE Select | ENSP00000359245.3:p.Ile1638Thr | |
| ENST00000370225.3:c.4913T>C | ENSP00000359245.3:p.Ile1638Thr | |
| ENST00000460514.1:n.407T>C | ||
| ENST00000470771.1:n.23T>C | ||
| ENST00000536513.5:c.1289T>C | ENSP00000439707.2:p.Ile430Thr | |
| NM_000350.2:c.4913T>C | NP_000341.2:p.Ile1638Thr | |
| NM_000350.3:c.4913T>C MANE Select | NP_000341.2:p.Ile1638Thr |