Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781932C>G , CM000672.2:g.94781932C>G | GRCh38 |
| NC_000010.10:g.96541689C>G , CM000672.1:g.96541689C>G | GRCh37 |
| NC_000010.9:g.96531679C>G | NCBI36 |
| NG_008384.2:g.24227C>G | |
| NG_008384.3:g.24252C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.754C>G MANE Select | ENSP00000360372.3:p.Gln252Glu | |
| ENST00000645461.1:n.1807C>G | ||
| ENST00000371321.7:c.754C>G | ENSP00000360372.3:p.Gln252Glu | |
| ENST00000464755.1:c.1517C>G | ENSP00000483243.1:n.1517C>G | |
| NM_000769.2:c.754C>G | NP_000760.1:p.Gln252Glu | |
| NM_000769.4:c.754C>G MANE Select | NP_000760.1:p.Gln252Glu |