Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744800C>G , CM000679.2:g.47744800C>G | GRCh38 |
| NC_000017.10:g.45822166C>G , CM000679.1:g.45822166C>G | GRCh37 |
| NC_000017.9:g.43177165C>G | NCBI36 |
| NG_012166.1:g.16557C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1042C>G MANE Select | ENSP00000177694.1:p.Gln348Glu | |
| ENST00000177694.1:c.1042C>G | ENSP00000177694.1:p.Gln348Glu | |
| NM_013351.1:c.1042C>G | NP_037483.1:p.Gln348Glu | |
| XM_011524698.1:c.1105C>G | XP_011523000.1:p.Gln369Glu | |
| XM_011524699.1:c.709C>G | XP_011523001.1:p.Gln237Glu | |
| NM_013351.2:c.1042C>G MANE Select | NP_037483.1:p.Gln348Glu |