Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.23193805C= , CM000672.2:g.23193805C= | GRCh38 |
| NC_000010.10:g.23482734C= , CM000672.1:g.23482734C= | GRCh37 |
| NC_000010.9:g.23522740C= | NCBI36 |
| NG_009798.1:g.6275C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178161.3:c.886C= MANE Select | NP_835455.1:p.Arg296= |
| ENST00000376504.4:c.886C= MANE Select | ENSP00000365687.3:p.Arg296= |
| NM_178161.2:c.886C= | NP_835455.1:p.Arg296= |
| ENST00000376504.3:c.886C= | ENSP00000365687.3:p.Arg296= |
| ENST00000638469.1:c.216C= | ENSP00000491649.1:n.216C= |
| ENST00000639082.1:c.98C= | |
| ENST00000639873.1:c.194C= | ENSP00000491542.1:n.194C= |
| ENST00000640579.1:c.127C= | |
| ENST00000640697.1:c.117C= |