Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942976C= , CM000678.2:g.67942976C= | GRCh38 |
| NC_000016.9:g.67976879C= , CM000678.1:g.67976879C= | GRCh37 |
| NC_000016.8:g.66534380C= | NCBI36 |
| NG_009778.1:g.6137G= | |
| NG_033098.1:g.30719G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.312G= MANE Select | ENSP00000264005.5:p.Arg104= | |
| ENST00000264005.9:c.312G= | ENSP00000264005.5:p.Arg104= | |
| ENST00000570369.5:c.40G= | ||
| ENST00000570980.1:c.96G= | ENSP00000464651.1:p.Arg32= | |
| ENST00000575277.1:n.90G= | ||
| ENST00000575467.5:c.*7G= | ENSP00000460653.1:n.*7G= | |
| NM_000229.1:c.312G= | NP_000220.1:p.Arg104= | |
| NM_000229.2:c.312G= MANE Select | NP_000220.1:p.Arg104= |