Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612577A>T , CM000666.2:g.87612577A>T | GRCh38 |
| NC_000004.11:g.88533729A>T , CM000666.1:g.88533729A>T | GRCh37 |
| NC_000004.10:g.88752753A>T | NCBI36 |
| NG_011595.1:g.9049A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.391A>T MANE Select | ENSP00000498766.1:p.Ile131Phe | |
| ENST00000282478.7:c.391A>T | ENSP00000282478.7:p.Ile131Phe | |
| ENST00000399271.5:c.391A>T | ENSP00000382213.1:p.Ile131Phe | |
| NM_014208.3:c.391A>T MANE Select | NP_055023.2:p.Ile131Phe |