Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23202743T>C , CM000670.2:g.23202743T>C | GRCh38 |
| NC_000008.10:g.23060256T>C , CM000670.1:g.23060256T>C | GRCh37 |
| NC_000008.9:g.23116201T>C | NCBI36 |
| NG_032107.1:g.27425A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003844.4:c.422A>G MANE Select | NP_003835.3:p.His141Arg |
| ENST00000221132.8:c.422A>G MANE Select | ENSP00000221132.3:p.His141Arg |
| NM_003844.3:c.422A>G | NP_003835.3:p.His141Arg |
| ENST00000221132.7:c.422A>G | ENSP00000221132.3:p.His141Arg |
| ENST00000524158.5:c.-185A>G | ENSP00000428884.1:n.-185A>G |
| ENST00000613472.1:c.32-84A>G | ENSP00000480778.1:n.32-84A>G |