Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999204C= , CM000663.2:g.54999204C= | GRCh38 |
| NC_000001.10:g.55464877C= , CM000663.1:g.55464877C= | GRCh37 |
| NC_000001.9:g.55237465C= | NCBI36 |
| NG_008965.1:g.5261C= | |
| NG_008965.2:g.5272C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.18C= MANE Select | ENSP00000498282.1:p.Thr6= | |
| ENST00000371265.4:c.18C= | ENSP00000360312.4:p.Thr6= | |
| NM_057176.2:c.18C= | NP_476517.1:p.Thr6= | |
| NM_057176.3:c.18C= MANE Select | NP_476517.1:p.Thr6= |