Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625601C= , CM000670.2:g.54625601C= | GRCh38 |
| NC_000008.10:g.55538161C= , CM000670.1:g.55538161C= | GRCh37 |
| NC_000008.9:g.55700714C= | NCBI36 |
| NG_009840.1:g.14535C= | |
| NG_009840.2:g.14535C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.1719C= MANE Select | ENSP00000220676.1:p.Asn573= | |
| ENST00000636932.1:c.787+3313C= | ENSP00000489857.1:n.787+3313C= | |
| ENST00000637698.1:c.787+3313C= | ENSP00000490104.1:n.787+3313C= | |
| ENST00000220676.1:c.1719C= | ENSP00000220676.1:p.Asn573= | |
| NM_006269.1:c.1719C= | NP_006260.1:p.Asn573= | |
| XM_017013721.1:c.1740C= | XP_016869210.1:p.Asn580= | |
| XM_017013722.1:c.1719C= | XP_016869211.1:p.Asn573= | |
| NM_001375654.1:c.787+3313C= | NP_001362583.1:n.787+3313C= | |
| NM_006269.2:c.1719C= MANE Select | NP_006260.1:p.Asn573= |