Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201323066C>T , CM000663.2:g.201323066C>T | GRCh38 |
| NC_000001.10:g.201292194C>T , CM000663.1:g.201292194C>T | GRCh37 |
| NC_000001.9:g.199558817C>T | NCBI36 |
| NG_023337.1:g.44615C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005337.3:c.1557C>T MANE Select | NP_001005337.1:p.Ser519= |
| ENST00000367324.8:c.1557C>T MANE Select | ENSP00000356293.4:p.Ser519= |
| NM_000299.3:c.1620C>T | NP_000290.2:p.Ser540= |
| NM_000299.4:c.1620C>T | NP_000290.2:p.Ser540= |
| NM_001005337.2:c.1557C>T | NP_001005337.1:p.Ser519= |
| ENST00000263946.7:c.1620C>T | ENSP00000263946.3:p.Ser540= |
| ENST00000352845.3:c.1620C>T | ENSP00000295597.3:p.Ser540= |
| ENST00000367324.7:c.1557C>T | ENSP00000356293.3:p.Ser519= |
| ENST00000622031.4:c.1554C>T | ENSP00000482213.1:p.Ser518= |