Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271250T>A , CM000668.2:g.31271250T>A | GRCh38 |
| NC_000006.11:g.31239027T>A , CM000668.1:g.31239027T>A | GRCh37 |
| NC_000006.10:g.31347006T>A | NCBI36 |
| NG_029422.2:g.5882A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.442A>T MANE Select | ENSP00000365402.5:p.Ile148Phe | |
| ENST00000376228.9:c.442A>T | ENSP00000365402.5:p.Ile148Phe | |
| ENST00000376237.8:c.*29A>T | ENSP00000365412.4:n.*29A>T | |
| ENST00000383329.7:c.442A>T | ENSP00000372819.3:p.Ile148Phe | |
| ENST00000415537.1:c.440A>T | ||
| ENST00000484378.1:n.711A>T | ||
| ENST00000487245.5:n.801A>T | ||
| ENST00000495835.1:n.631A>T | ||
| NM_002117.5:c.442A>T | NP_002108.4:p.Ile148Phe | |
| NM_002117.6:c.442A>T MANE Select | NP_002108.4:p.Ile148Phe |