Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541527C>T , CM000664.2:g.232541527C>T | GRCh38 |
| NC_000002.11:g.233406237C>T , CM000664.1:g.233406237C>T | GRCh37 |
| NC_000002.10:g.233114481C>T | NCBI36 |
| NG_012954.1:g.6801C>T | |
| NG_012954.2:g.6836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.504C>T MANE Select | ENSP00000498757.1:p.Phe168= | |
| ENST00000389492.3:c.350+816C>T | ENSP00000374143.3:n.350+816C>T | |
| ENST00000389494.7:c.504C>T | ENSP00000374145.3:p.Phe168= | |
| ENST00000485094.1:n.525C>T | ||
| NM_005199.4:c.504C>T | NP_005190.4:p.Phe168= | |
| NM_005199.5:c.504C>T MANE Select | NP_005190.4:p.Phe168= |