Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612056G>A , CM000670.2:g.10612056G>A | GRCh38 |
| NC_000008.10:g.10469566G>A , CM000670.1:g.10469566G>A | GRCh37 |
| NC_000008.9:g.10506976G>A | NCBI36 |
| NG_028035.1:g.48052C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.2042C>T MANE Select | NP_849188.4:p.Ser681Phe |
| ENST00000382483.4:c.2042C>T MANE Select | ENSP00000371923.3:p.Ser681Phe |
| NM_178857.5:c.2042C>T | NP_849188.4:p.Ser681Phe |
| ENST00000382483.3:c.2042C>T | ENSP00000371923.3:p.Ser681Phe |