Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733322C= , CM000684.2:g.37733322C= | GRCh38 |
| NC_000022.10:g.38129329C= , CM000684.1:g.38129329C= | GRCh37 |
| NC_000022.9:g.36459275C= | NCBI36 |
| NG_012857.1:g.41335C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3972C= MANE Select | ENSP00000496394.1:p.Phe1324= | |
| ENST00000344404.10:c.*3455C= | ENSP00000340312.6:n.*3455C= | |
| ENST00000406386.7:c.3972C= | ENSP00000384312.3:p.Phe1324= | |
| NM_001039141.2:c.3972C= | NP_001034230.1:p.Phe1324= | |
| XM_011530646.1:c.512-2963G= | XP_011528948.1:n.512-2963G= | |
| NM_001039141.3:c.3972C= MANE Select | NP_001034230.1:p.Phe1324= |