Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39588157C= , CM000677.2:g.39588157C= | GRCh38 |
| NC_000015.9:g.39880358C= , CM000677.1:g.39880358C= | GRCh37 |
| NC_000015.8:g.37667650C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003246.4:c.1410C= MANE Select | NP_003237.2:p.Asn470= |
| ENST00000260356.6:c.1410C= MANE Select | ENSP00000260356.5:p.Asn470= |
| NM_003246.2:c.1410C= | NP_003237.2:p.Asn470= |
| NM_003246.3:c.1410C= | NP_003237.2:p.Asn470= |
| ENST00000260356.5:c.1410C= | ENSP00000260356.5:p.Asn470= |
| ENST00000466755.1:n.185C= | |
| ENST00000497720.1:n.206C= | |
| XM_011521970.1:c.1410C= | XP_011520272.1:p.Asn470= |
| XM_011521971.1:c.1410C= | XP_011520273.1:p.Asn470= |
| XM_011521971.2:c.1410C= | XP_011520273.1:p.Asn470= |
| XR_931897.1:n.1585C= |