Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270458T>A , CM000668.2:g.31270458T>A | GRCh38 |
| NC_000006.11:g.31238235T>A , CM000668.1:g.31238235T>A | GRCh37 |
| NC_000006.10:g.31346214T>A | NCBI36 |
| NG_029422.2:g.6674A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.647A>T MANE Select | ENSP00000365402.5:p.His216Leu | |
| ENST00000376228.9:c.647A>T | ENSP00000365402.5:p.His216Leu | |
| ENST00000376237.8:c.*234A>T | ENSP00000365412.4:n.*234A>T | |
| ENST00000383329.7:c.647A>T | ENSP00000372819.3:p.His216Leu | |
| ENST00000415537.1:c.645A>T | ||
| ENST00000487245.5:n.1006A>T | ||
| ENST00000495835.1:n.836A>T | ||
| NM_002117.5:c.647A>T | NP_002108.4:p.His216Leu | |
| NM_002117.6:c.647A>T MANE Select | NP_002108.4:p.His216Leu |