Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942719G= , CM000678.2:g.67942719G= | GRCh38 |
| NC_000016.9:g.67976622G= , CM000678.1:g.67976622G= | GRCh37 |
| NC_000016.8:g.66534123G= | NCBI36 |
| NG_009778.1:g.6394C= | |
| NG_033098.1:g.30976C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.475C= MANE Select | NP_000220.1:p.Arg159= |
| ENST00000264005.10:c.475C= MANE Select | ENSP00000264005.5:p.Arg159= |
| NM_000229.1:c.475C= | NP_000220.1:p.Arg159= |
| ENST00000264005.9:c.475C= | ENSP00000264005.5:p.Arg159= |
| ENST00000570369.5:c.155+142C= | |
| ENST00000570980.1:c.259C= | ENSP00000464651.1:p.Arg87= |
| ENST00000573538.5:c.118C= | ENSP00000463220.1:p.Arg40= |
| ENST00000573846.1:n.89C= | |
| ENST00000575277.1:n.253C= | |
| ENST00000575467.5:c.*170C= | ENSP00000460653.1:n.*170C= |