Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45768373C= , CM000681.2:g.45768373C= | GRCh38 |
| NC_000019.9:g.46271631C= , CM000681.1:g.46271631C= | GRCh37 |
| NC_000019.8:g.50963471C= | NCBI36 |
| NG_009784.1:g.19185G= | |
| NG_012745.1:g.5867G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175875.5:c.472G= (SIX5) MANE Select | NP_787071.3:p.Ala158= |
| ENST00000317578.7:c.472G= (SIX5) MANE Select | ENSP00000316842.4:p.Ala158= |
| NM_175875.4:c.472G= (SIX5) | NP_787071.2:p.Ala158= |
| NR_147193.1:n.336+242C= (DM1-AS) | |
| ENST00000317578.6:c.472G= (SIX5) | ENSP00000316842.4:p.Ala158= |
| ENST00000560160.1:c.255G= (SIX5) | |
| ENST00000560168.1:c.131-261G= (SIX5) | ENSP00000453189.2:n.131-261G= |
| ENST00000622857.1:c.15+457G= (SIX5) | ENSP00000481365.1:n.15+457G= |