Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999208C= , CM000663.2:g.54999208C= | GRCh38 |
| NC_000001.10:g.55464881C= , CM000663.1:g.55464881C= | GRCh37 |
| NC_000001.9:g.55237469C= | NCBI36 |
| NG_008965.1:g.5265C= | |
| NG_008965.2:g.5276C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.22C= MANE Select | ENSP00000498282.1:p.Arg8= | |
| ENST00000371265.4:c.22C= | ENSP00000360312.4:p.Arg8= | |
| NM_057176.2:c.22C= | NP_476517.1:p.Arg8= | |
| NM_057176.3:c.22C= MANE Select | NP_476517.1:p.Arg8= |