Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079882C>A , CM000679.2:g.8079882C>A | GRCh38 |
| NC_000017.10:g.7983200C>A , CM000679.1:g.7983200C>A | GRCh37 |
| NC_000017.9:g.7923925C>A | NCBI36 |
| NG_007099.1:g.12822G>T | |
| NG_007099.2:g.12835G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.814G>T MANE Select | NP_001130.1:p.Val272Phe |
| ENST00000647874.1:c.814G>T MANE Select | ENSP00000497784.1:p.Val272Phe |
| NM_001139.2:c.814G>T | NP_001130.1:p.Val272Phe |
| ENST00000319144.4:c.814G>T | ENSP00000315167.4:p.Val272Phe |
| ENST00000583276.5:n.198G>T | |
| ENST00000584116.1:n.214G>T | |
| ENST00000649809.1:c.22G>T | ENSP00000496845.1:p.Val8Phe |
| XR_001752778.1:n.111C>A |