Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52424524G>T , CM000674.2:g.52424524G>T | GRCh38 |
| NC_000012.11:g.52818308G>T , CM000674.1:g.52818308G>T | GRCh37 |
| NC_000012.10:g.51104575G>T | NCBI36 |
| NG_008403.1:g.14803C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004693.3:c.1649C>A MANE Select | NP_004684.2:p.Thr550Lys |
| ENST00000252245.6:c.1649C>A MANE Select | ENSP00000252245.5:p.Thr550Lys |
| NM_004693.2:c.1649C>A | NP_004684.2:p.Thr550Lys |
| ENST00000252245.5:c.1649C>A | ENSP00000252245.5:p.Thr550Lys |