Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075677G>C , CM000679.2:g.8075677G>C | GRCh38 |
| NC_000017.10:g.7978995G>C , CM000679.1:g.7978995G>C | GRCh37 |
| NC_000017.9:g.7919720G>C | NCBI36 |
| NG_007099.1:g.17027C>G | |
| NG_007099.2:g.17040C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1572C>G MANE Select | ENSP00000497784.1:p.Asp524Glu | |
| ENST00000649809.1:c.636C>G | ENSP00000496845.1:p.Asp212Glu | |
| ENST00000319144.4:c.1572C>G | ENSP00000315167.4:p.Asp524Glu | |
| ENST00000577351.5:n.479+498C>G | ||
| NM_001139.2:c.1572C>G | NP_001130.1:p.Asp524Glu | |
| NM_001139.3:c.1572C>G MANE Select | NP_001130.1:p.Asp524Glu |