Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68839753C= , CM000685.2:g.68839753C= | GRCh38 |
| NC_000023.10:g.68059596C= , CM000685.1:g.68059596C= | GRCh37 |
| NC_000023.9:g.67976321C= | NCBI36 |
| NG_008887.1:g.15757C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004429.5:c.496C= MANE Select | NP_004420.1:p.Gln166= |
| ENST00000204961.5:c.496C= MANE Select | ENSP00000204961.4:p.Gln166= |
| NM_004429.4:c.496C= | NP_004420.1:p.Gln166= |
| ENST00000204961.4:c.496C= | ENSP00000204961.4:p.Gln166= |