Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508556C= , CM000685.2:g.83508556C= | GRCh38 |
| NC_000023.10:g.82763564C= , CM000685.1:g.82763564C= | GRCh37 |
| NC_000023.9:g.82650220C= | NCBI36 |
| NG_009936.2:g.5296C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000307.5:c.232C= MANE Select | NP_000298.3:p.Gln78= |
| ENST00000644024.2:c.232C= MANE Select | ENSP00000495996.1:p.Gln78= |
| NM_000307.4:c.232C= | NP_000298.3:p.Gln78= |
| ENST00000373200.4:c.232C= | ENSP00000362296.2:p.Gln78= |