Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95396288G= , CM000669.2:g.95396288G= | GRCh38 |
| NC_000007.13:g.95025600G= , CM000669.1:g.95025600G= | GRCh37 |
| NC_000007.12:g.94863536G= | NCBI36 |
| NG_008726.1:g.5088C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000940.3:c.63C= MANE Select | NP_000931.1:p.Phe21= |
| ENST00000265627.10:c.63C= MANE Select | ENSP00000265627.5:p.Phe21= |
| NM_000940.2:c.63C= | NP_000931.1:p.Phe21= |
| ENST00000265627.9:c.63C= | ENSP00000265627.5:p.Phe21= |
| ENST00000418617.5:c.63C= | ENSP00000393174.1:p.Phe21= |
| ENST00000427422.5:c.63C= | ENSP00000413276.1:p.Phe21= |
| ENST00000442770.5:c.63C= | ENSP00000390253.1:p.Phe21= |
| ENST00000451904.5:c.63C= | ENSP00000403850.1:p.Phe21= |
| ENST00000456855.5:c.63C= | ENSP00000391072.1:p.Phe21= |
| ENST00000482624.5:n.81C= |