Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988872C= , CM000672.2:g.94988872C= | GRCh38 |
| NC_000010.10:g.96748629C= , CM000672.1:g.96748629C= | GRCh37 |
| NC_000010.9:g.96738619C= | NCBI36 |
| NG_008385.1:g.55215C= | |
| NG_008385.2:g.55715C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1317C= MANE Select | ENSP00000260682.6:p.Ala439= | |
| ENST00000643112.1:c.*326C= | ENSP00000496202.1:n.*326C= | |
| ENST00000260682.6:c.1317C= | ENSP00000260682.6:p.Ala439= | |
| NM_000771.3:c.1317C= | NP_000762.2:p.Ala439= | |
| NM_000771.4:c.1317C= MANE Select | NP_000762.2:p.Ala439= |