Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056713C= , CM000667.2:g.136056713C= | GRCh38 |
| NC_000005.9:g.135392402C= , CM000667.1:g.135392402C= | GRCh37 |
| NC_000005.8:g.135420301C= | NCBI36 |
| NG_012646.1:g.32819C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1596C= MANE Select | ENSP00000416330.2:p.Asn532= | |
| ENST00000442011.6:c.1596C= | ENSP00000416330.2:p.Asn532= | |
| ENST00000506699.5:n.2113C= | ||
| ENST00000507018.5:c.1574C= | ||
| ENST00000509485.5:c.593C= | ||
| ENST00000514242.5:n.367C= | ||
| ENST00000514554.5:c.748C= | ||
| NM_000358.2:c.1596C= | NP_000349.1:p.Asn532= | |
| NM_000358.3:c.1596C= MANE Select | NP_000349.1:p.Asn532= |