Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213482C>A , CM000667.2:g.1213482C>A | GRCh38 |
| NC_000005.9:g.1213597C>A , CM000667.1:g.1213597C>A | GRCh37 |
| NC_000005.8:g.1266597C>A | NCBI36 |
| NG_008282.1:g.16888C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.683C>A MANE Select | ENSP00000305302.10:p.Thr228Lys | |
| ENST00000304460.10:c.683C>A | ENSP00000305302.10:p.Thr228Lys | |
| ENST00000515652.5:c.591C>A | ENSP00000425701.1:p.His197Gln | |
| NM_001003841.2:c.683C>A | NP_001003841.1:p.Thr228Lys | |
| NM_001003841.3:c.683C>A MANE Select | NP_001003841.1:p.Thr228Lys |