Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23427833G>A , CM000676.2:g.23427833G>A | GRCh38 |
| NC_000014.8:g.23897042G>A , CM000676.1:g.23897042G>A | GRCh37 |
| NC_000014.7:g.22966882G>A | NCBI36 |
| NG_007884.1:g.12829C>T , LRG_384:g.12829C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.1640C>T MANE Select | NP_000248.2:p.Thr547Ile |
| ENST00000355349.4:c.1640C>T MANE Select | ENSP00000347507.3:p.Thr547Ile |
| NM_000257.3:c.1640C>T | NP_000248.2:p.Thr547Ile |
| ENST00000355349.3:c.1640C>T | ENSP00000347507.3:p.Thr547Ile |
| XM_017021340.1:c.1640C>T | XP_016876829.1:p.Thr547Ile |
| XR_245686.3:n.1746C>T |