Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320756C>G , CM000666.2:g.119320756C>G | GRCh38 |
| NC_000004.11:g.120241911C>G , CM000666.1:g.120241911C>G | GRCh37 |
| NC_000004.10:g.120461359C>G | NCBI36 |
| NG_011444.1:g.6406G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.154G>C MANE Select | ENSP00000274024.3:p.Glu52Gln | |
| ENST00000274024.3:c.154G>C | ENSP00000274024.3:p.Glu52Gln | |
| NM_000134.3:c.154G>C | NP_000125.2:p.Glu52Gln | |
| NM_000134.4:c.154G>C MANE Select | NP_000125.2:p.Glu52Gln |