Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507025G= , CM000674.2:g.14507025G= | GRCh38 |
| NC_000012.11:g.14659959G= , CM000674.1:g.14659959G= | GRCh37 |
| NC_000012.10:g.14551226G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1280C= MANE Select | ENSP00000240617.5:p.Ser427= | |
| ENST00000240617.9:c.1280C= | ENSP00000240617.5:p.Ser427= | |
| NM_024829.5:c.1280C= | NP_079105.4:p.Ser427= | |
| NM_024829.6:c.1280C= MANE Select | NP_079105.4:p.Ser427= |