Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96809338C= , CM000664.2:g.96809338C= | GRCh38 |
| NC_000002.11:g.97475075C= , CM000664.1:g.97475075C= | GRCh37 |
| NC_000002.10:g.96838802C= | NCBI36 |
| NG_016608.1:g.53437C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.2149C= MANE Select | ENSP00000366275.2:p.Gln717= | |
| ENST00000377075.2:c.2149C= | ENSP00000366275.2:p.Gln717= | |
| NM_020184.3:c.2149C= | NP_064569.3:p.Gln717= | |
| XM_005263914.2:c.2212C= | XP_005263971.1:p.Gln738= | |
| XM_005263915.2:c.2237C= | XP_005263972.1:p.Pro746= | |
| XM_005263914.4:c.2212C= | XP_005263971.1:p.Gln738= | |
| XM_005263915.4:c.2237C= | XP_005263972.1:p.Pro746= | |
| XM_017003799.1:c.610C= | XP_016859288.1:p.Gln204= | |
| NM_020184.4:c.2149C= MANE Select | NP_064569.3:p.Gln717= |