Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81750234C>A , CM000668.2:g.81750234C>A | GRCh38 |
| NC_000006.11:g.82459951C>A , CM000668.1:g.82459951C>A | GRCh37 |
| NC_000006.10:g.82516670C>A | NCBI36 |
| NG_056210.1:g.7478G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017633.3:c.790G>T MANE Select | NP_060103.2:p.Val264Phe |
| ENST00000320172.11:c.790G>T MANE Select | ENSP00000318298.6:p.Val264Phe |
| NM_017633.2:c.790G>T | NP_060103.2:p.Val264Phe |
| ENST00000320172.10:c.790G>T | ENSP00000318298.6:p.Val264Phe |
| ENST00000369754.7:c.847G>T | ENSP00000358769.3:p.Val283Phe |
| ENST00000369756.3:c.1033G>T | ENSP00000358771.3:p.Val345Phe |
| ENST00000412306.1:c.223+1356G>T | |
| ENST00000423467.1:c.165-173G>T |