Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63976234G>T , CM000673.2:g.63976234G>T | GRCh38 |
| NC_000011.9:g.63743706G>T , CM000673.1:g.63743706G>T | GRCh37 |
| NC_000011.8:g.63500282G>T | NCBI36 |
| NG_046750.1:g.6628G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314133.4:c.124G>T MANE Select | ENSP00000321260.3:p.Val42Phe | |
| ENST00000314133.3:c.124G>T | ENSP00000321260.3:p.Val42Phe | |
| ENST00000535431.1:c.114+1440G>T | ENSP00000475957.1:n.114+1440G>T | |
| NM_004074.2:c.124G>T | NP_004065.1:p.Val42Phe | |
| NM_004074.3:c.124G>T MANE Select | NP_004065.1:p.Val42Phe |