Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004177C= , CM000681.2:g.47004177C= | GRCh38 |
| NC_000019.9:g.47507434C= , CM000681.1:g.47507434C= | GRCh37 |
| NC_000019.8:g.52199274C= | NCBI36 |
| NG_047014.1:g.90611C= | |
| NG_047014.2:g.148181C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004491.5:c.*3489C= MANE Select | NP_004482.4:n.*3489C= |
| ENST00000672722.1:c.*3489C= MANE Select | ENSP00000500409.1:n.*3489C= |
| NM_004491.4:c.7989C= | NP_004482.4:n.7989C= |
| ENST00000404338.7:c.7989C= | ENSP00000385720.2:n.7989C= |
| ENST00000404338.8:c.7989C= | ENSP00000385720.2:n.7989C= |
| ENST00000614079.1:c.7566C= | ENSP00000483730.1:n.7566C= |