Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446979C= , CM000666.2:g.39446979C= | GRCh38 |
| NC_000004.11:g.39448599C= , CM000666.1:g.39448599C= | GRCh37 |
| NC_000004.10:g.39124994C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2253C= MANE Select | ENSP00000257408.4:p.Asn751= | |
| ENST00000257408.4:c.2253C= | ENSP00000257408.4:p.Asn751= | |
| NM_175737.3:c.2253C= | NP_783864.1:p.Asn751= | |
| XM_005262644.1:c.2226C= | XP_005262701.1:p.Asn742= | |
| NM_175737.4:c.2253C= MANE Select | NP_783864.1:p.Asn751= |