Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118152656G>C , CM000673.2:g.118152656G>C | GRCh38 |
| NC_000011.9:g.118023371G>C , CM000673.1:g.118023371G>C | GRCh37 |
| NC_000011.8:g.117528581G>C | NCBI36 |
| NG_011710.1:g.5260C>G , LRG_330:g.5260C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.18C>G MANE Select | ENSP00000322460.4:p.Asp6Glu | |
| ENST00000324727.8:c.18C>G | ENSP00000322460.4:p.Asp6Glu | |
| ENST00000529878.1:c.18C>G | ENSP00000436343.1:p.Asp6Glu | |
| NM_001142348.1:c.18C>G | NP_001135820.1:p.Asp6Glu | |
| NM_174934.3:c.18C>G , LRG_330t1:c.18C>G | NP_777594.1:p.Asp6Glu | |
| NM_001142348.2:c.18C>G | NP_001135820.1:p.Asp6Glu | |
| NM_174934.4:c.18C>G MANE Select | NP_777594.1:p.Asp6Glu |