Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375592C>T , CM000676.2:g.23375592C>T | GRCh38 |
| NC_000014.8:g.23844801C>T , CM000676.1:g.23844801C>T | GRCh37 |
| NC_000014.7:g.22914641C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.231-33C>T MANE Select | ENSP00000380417.2:n.231-33C>T | |
| ENST00000329715.2:c.279-33C>T | ENSP00000328111.2:n.279-33C>T | |
| ENST00000397242.2:c.231-33C>T | ENSP00000380417.2:n.231-33C>T | |
| NM_022789.3:c.279-33C>T | NP_073626.1:n.279-33C>T | |
| NM_172314.1:c.231-33C>T | NP_758525.1:n.231-33C>T |