Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951939C= , CM000670.2:g.19951939C= | GRCh38 |
| NC_000008.10:g.19809450C= , CM000670.1:g.19809450C= | GRCh37 |
| NC_000008.9:g.19853730C= | NCBI36 |
| NG_008855.1:g.17869C= | |
| NG_008855.2:g.55223C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.420C= MANE Select | ENSP00000497642.1:p.Asn140= | |
| ENST00000311322.8:c.420C= | ENSP00000309757.6:p.Asn140= | |
| ENST00000520959.5:c.192C= | ENSP00000428496.1:p.Asn64= | |
| NM_000237.2:c.420C= | NP_000228.1:p.Asn140= | |
| NM_000237.3:c.420C= MANE Select | NP_000228.1:p.Asn140= |