Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52687960G>A , CM000663.2:g.52687960G>A | GRCh38 |
| NC_000001.10:g.53153632G>A , CM000663.1:g.53153632G>A | GRCh37 |
| NC_000001.9:g.52926220G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023077.3:c.456C>T MANE Select | NP_075565.2:p.Asn152= |
| ENST00000371538.5:c.456C>T MANE Select | ENSP00000360593.3:p.Asn152= |
| NM_023077.2:c.456C>T | NP_075565.2:p.Asn152= |
| ENST00000371538.4:c.456C>T | ENSP00000360593.3:p.Asn152= |
| ENST00000486918.1:n.510C>T |