Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.129980567C>T , CM000664.2:g.129980567C>T | GRCh38 |
| NC_000002.11:g.130738140C>T , CM000664.1:g.130738140C>T | GRCh37 |
| NC_000002.10:g.130454610C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410061.4:c.452C>T MANE Select | ENSP00000387307.2:p.Thr151Met | |
| ENST00000410061.3:c.452C>T | ENSP00000387307.2:p.Thr151Met | |
| NM_032144.2:c.452C>T | NP_115520.2:p.Thr151Met | |
| NM_032144.3:c.452C>T MANE Select | NP_115520.2:p.Thr151Met |