Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247896410T>C , CM000663.2:g.247896410T>C | GRCh38 |
| NC_000001.10:g.248059712T>C , CM000663.1:g.248059712T>C | GRCh37 |
| NC_000001.9:g.246126335T>C | NCBI36 |
| NG_053132.1:g.5824T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360358.3:c.824T>C MANE Select | ENSP00000353516.3:p.Met275Thr | |
| NM_001001957.2:c.824T>C MANE Select | NP_001001957.2:p.Met275Thr |