Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1219054C>A , CM000667.2:g.1219054C>A | GRCh38 |
| NC_000005.9:g.1219169C>A , CM000667.1:g.1219169C>A | GRCh37 |
| NC_000005.8:g.1272169C>A | NCBI36 |
| NG_008282.1:g.22460C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.1325C>A MANE Select | NP_001003841.1:p.Pro442His |
| ENST00000304460.11:c.1325C>A MANE Select | ENSP00000305302.10:p.Pro442His |
| NM_001003841.2:c.1325C>A | NP_001003841.1:p.Pro442His |
| ENST00000304460.10:c.1325C>A | ENSP00000305302.10:p.Pro442His |
| ENST00000515652.5:c.*270C>A | ENSP00000425701.1:n.*270C>A |