Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813700G>T , CM000674.2:g.52813700G>T | GRCh38 |
| NC_000012.11:g.53207484G>T , CM000674.1:g.53207484G>T | GRCh37 |
| NC_000012.10:g.51493751G>T | NCBI36 |
| NG_007380.1:g.5852C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.359C>A MANE Select | NP_002263.3:p.Thr120Asn |
| ENST00000551956.2:c.359C>A MANE Select | ENSP00000448220.1:p.Thr120Asn |
| NM_002272.3:c.359C>A | NP_002263.3:p.Thr120Asn |
| ENST00000548097.5:c.211+148C>A | ENSP00000449755.1:n.211+148C>A |
| ENST00000551956.1:c.359C>A | ENSP00000448220.1:p.Thr120Asn |
| ENST00000552668.1:c.240C>A | ENSP00000447320.1:p.His80Gln |