Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12118869C>T , CM000672.2:g.12118869C>T | GRCh38 |
| NC_000010.10:g.12160868C>T , CM000672.1:g.12160868C>T | GRCh37 |
| NC_000010.9:g.12200874C>T | NCBI36 |
| NG_033248.1:g.54953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2523C>T MANE Select | ENSP00000263035.4:p.Phe841= | |
| ENST00000263035.8:c.2523C>T | ENSP00000263035.4:p.Phe841= | |
| ENST00000479283.1:n.91C>T | ||
| NM_018706.6:c.2523C>T | NP_061176.3:p.Phe841= | |
| NM_018706.7:c.2523C>T MANE Select | NP_061176.4:p.Phe841= |