Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899375C>G , CM000679.2:g.4899375C>G | GRCh38 |
| NC_000017.10:g.4802670C>G , CM000679.1:g.4802670C>G | GRCh37 |
| NC_000017.9:g.4743449C>G | NCBI36 |
| NG_008029.2:g.8701G>C | |
| NG_028005.1:g.71036C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1042G>C MANE Select | ENSP00000497829.1:p.Glu348Gln | |
| ENST00000649830.1:c.109G>C | ENSP00000496907.1:p.Glu37Gln | |
| ENST00000652550.1:n.772G>C | ||
| ENST00000293780.4:c.1042G>C | ENSP00000293780.4:p.Glu348Gln | |
| ENST00000572438.1:n.728G>C | ||
| NM_000080.3:c.1042G>C | NP_000071.1:p.Glu348Gln | |
| NM_000080.4:c.1042G>C MANE Select | NP_000071.1:p.Glu348Gln | |
| XM_017024115.1:c.1006G>C | XP_016879604.1:p.Glu336Gln | |
| XR_001752421.1:n.1772G>C |