Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928847C= , CM000684.2:g.43928847C= | GRCh38 |
| NC_000022.10:g.44324727C= , CM000684.1:g.44324727C= | GRCh37 |
| NC_000022.9:g.42656060C= | NCBI36 |
| NG_008631.1:g.10109C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.444C= MANE Select | NP_079501.2:p.Ile148= |
| ENST00000216180.8:c.444C= MANE Select | ENSP00000216180.3:p.Ile148= |
| NM_025225.2:c.444C= | NP_079501.2:p.Ile148= |
| ENST00000216180.7:c.444C= | ENSP00000216180.3:p.Ile148= |
| ENST00000406117.6:c.*76C= | ENSP00000384668.2:n.*76C= |
| ENST00000423180.2:c.432C= | ENSP00000397987.2:p.Ile144= |
| ENST00000478713.1:n.478C= |