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