Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107949C>T , CM000672.2:g.12107949C>T | GRCh38 |
| NC_000010.10:g.12149948C>T , CM000672.1:g.12149948C>T | GRCh37 |
| NC_000010.9:g.12189954C>T | NCBI36 |
| NG_033248.1:g.44033C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2088C>T MANE Select | NP_061176.4:p.Leu696= |
| ENST00000263035.9:c.2088C>T MANE Select | ENSP00000263035.4:p.Leu696= |
| NM_018706.6:c.2088C>T | NP_061176.3:p.Leu696= |
| ENST00000263035.8:c.2088C>T | ENSP00000263035.4:p.Leu696= |
| ENST00000448829.1:c.591C>T |