Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320742A>G , CM000666.2:g.119320742A>G | GRCh38 |
| NC_000004.11:g.120241897A>G , CM000666.1:g.120241897A>G | GRCh37 |
| NC_000004.10:g.120461345A>G | NCBI36 |
| NG_011444.1:g.6420T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.168T>C MANE Select | ENSP00000274024.3:p.Phe56= | |
| ENST00000274024.3:c.168T>C | ENSP00000274024.3:p.Phe56= | |
| NM_000134.3:c.168T>C | NP_000125.2:p.Phe56= | |
| NM_000134.4:c.168T>C MANE Select | NP_000125.2:p.Phe56= |