Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23202743T>A , CM000670.2:g.23202743T>A | GRCh38 |
| NC_000008.10:g.23060256T>A , CM000670.1:g.23060256T>A | GRCh37 |
| NC_000008.9:g.23116201T>A | NCBI36 |
| NG_032107.1:g.27425A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003844.4:c.422A>T MANE Select | NP_003835.3:p.His141Leu |
| ENST00000221132.8:c.422A>T MANE Select | ENSP00000221132.3:p.His141Leu |
| NM_003844.3:c.422A>T | NP_003835.3:p.His141Leu |
| ENST00000221132.7:c.422A>T | ENSP00000221132.3:p.His141Leu |
| ENST00000524158.5:c.-185A>T | ENSP00000428884.1:n.-185A>T |
| ENST00000613472.1:c.32-84A>T | ENSP00000480778.1:n.32-84A>T |