Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135907372G>C , CM000664.2:g.135907372G>C | GRCh38 |
| NC_000002.11:g.136664942G>C , CM000664.1:g.136664942G>C | GRCh37 |
| NC_000002.10:g.136381412G>C | NCBI36 |
| NG_034149.1:g.83313C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.1450C>G MANE Select | ENSP00000264161.4:p.His484Asp | |
| ENST00000264161.8:c.1450C>G | ENSP00000264161.4:p.His484Asp | |
| ENST00000422708.3:c.511C>G | ENSP00000387508.1:p.His171Asp | |
| ENST00000478212.5:n.344C>G | ||
| ENST00000489964.5:n.699C>G | ||
| NM_001293312.1:c.1150C>G | NP_001280241.1:p.His384Asp | |
| NM_001349.3:c.1450C>G | NP_001340.2:p.His484Asp | |
| NM_001349.4:c.1450C>G MANE Select | NP_001340.2:p.His484Asp |