Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553465C= , CM000673.2:g.17553465C= | GRCh38 |
| NC_000011.9:g.17575012C= , CM000673.1:g.17575012C= | GRCh37 |
| NC_000011.8:g.17531588C= | NCBI36 |
| NG_033191.1:g.11093C= | |
| NG_033191.2:g.11093C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.522C= | ENSP00000382323.2:p.Gly174= | |
| ENST00000399397.6:c.486C= MANE Select | ENSP00000382329.2:p.Gly162= | |
| ENST00000399391.6:c.522C= | ENSP00000382323.2:p.Gly174= | |
| ENST00000399397.5:c.486C= | ENSP00000382329.2:p.Gly162= | |
| ENST00000498332.5:n.392C= | ||
| NM_001277269.1:c.522C= | NP_001264198.1:p.Gly174= | |
| NM_001292063.1:c.486C= | NP_001278992.1:p.Gly162= | |
| NM_001277269.2:c.522C= | NP_001264198.1:p.Gly174= | |
| NM_001292063.2:c.486C= MANE Select | NP_001278992.1:p.Gly162= |