Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23117604G>A , CM000676.2:g.23117604G>A | GRCh38 |
| NC_000014.8:g.23586813G>A , CM000676.1:g.23586813G>A | GRCh37 |
| NC_000014.7:g.22656653G>A | NCBI36 |
| NG_009617.1:g.6662C>T , LRG_45:g.6662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.698C>T | ||
| ENST00000696122.1:n.475C>T | ||
| ENST00000206513.6:c.729C>T MANE Select | ENSP00000206513.5:p.Asn243= | |
| ENST00000206513.5:c.729C>T | ENSP00000206513.5:p.Asn243= | |
| NM_001805.3:c.729C>T | NP_001796.2:p.Asn243= | |
| XM_011536359.1:c.684C>T | XP_011534661.1:p.Asn228= | |
| NM_001805.4:c.729C>T MANE Select | NP_001796.2:p.Asn243= |