Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536653C= , CM000679.2:g.42536653C= | GRCh38 |
| NC_000017.10:g.40688671C= , CM000679.1:g.40688671C= | GRCh37 |
| NC_000017.9:g.37942197C= | NCBI36 |
| NG_011552.1:g.5721C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.381C= MANE Select | ENSP00000225927.1:p.Asn127= | |
| ENST00000225927.6:c.381C= | ENSP00000225927.1:p.Asn127= | |
| ENST00000586516.5:c.131C= | ||
| ENST00000591587.1:c.124C= | ENSP00000467836.1:p.Gln42= | |
| NM_000263.3:c.381C= | NP_000254.2:p.Asn127= | |
| XM_006721920.2:c.-362C= | XP_006721983.1:n.-362C= | |
| XM_011524840.1:c.-362C= | XP_011523142.1:n.-362C= | |
| XM_024450771.1:c.381C= | XP_024306539.1:p.Asn127= | |
| NM_000263.4:c.381C= MANE Select | NP_000254.2:p.Asn127= |