Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041232G= , CM000663.2:g.94041232G= | GRCh38 |
| NC_000001.10:g.94506788G= , CM000663.1:g.94506788G= | GRCh37 |
| NC_000001.9:g.94279376G= | NCBI36 |
| NG_009073.1:g.84918C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3499C= MANE Select | ENSP00000359245.3:p.Gln1167= | |
| ENST00000370225.3:c.3499C= | ENSP00000359245.3:p.Gln1167= | |
| ENST00000536513.5:c.-64-1143C= | ENSP00000439707.2:n.-64-1143C= | |
| NM_000350.2:c.3499C= | NP_000341.2:p.Gln1167= | |
| NM_000350.3:c.3499C= MANE Select | NP_000341.2:p.Gln1167= |