Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133935781G= , CM000665.2:g.133935781G= | GRCh38 |
| NC_000003.11:g.133654625G= , CM000665.1:g.133654625G= | GRCh37 |
| NC_000003.10:g.135137315G= | NCBI36 |
| NG_031964.2:g.121404C= | |
| NG_031964.3:g.121404C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005630.3:c.1807C= MANE Select | NP_005621.2:p.Arg603= |
| ENST00000310926.11:c.1807C= MANE Select | ENSP00000311291.4:p.Arg603= |
| NM_005630.2:c.1807C= | NP_005621.2:p.Arg603= |
| ENST00000310926.8:c.1807C= | ENSP00000311291.4:p.Arg603= |
| ENST00000481359.3:c.*369C= | ENSP00000420028.3:n.*369C= |
| ENST00000493729.5:c.1579C= | ENSP00000418893.1:p.Arg527= |
| XM_017007077.1:c.1303C= | XP_016862566.1:p.Arg435= |