Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.69778476G>A , CM000676.2:g.69778476G>A | GRCh38 |
| NC_000014.8:g.70245193G>A , CM000676.1:g.70245193G>A | GRCh37 |
| NC_000014.7:g.69314946G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003049.4:c.800C>T MANE Select | NP_003040.1:p.Ser267Phe |
| ENST00000216540.5:c.800C>T MANE Select | ENSP00000216540.4:p.Ser267Phe |
| NM_003049.3:c.800C>T | NP_003040.1:p.Ser267Phe |
| ENST00000216540.4:c.800C>T | ENSP00000216540.4:p.Ser267Phe |