Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940299G>C , CM000678.2:g.67940299G>C | GRCh38 |
| NC_000016.9:g.67974202G>C , CM000678.1:g.67974202G>C | GRCh37 |
| NC_000016.8:g.66531703G>C | NCBI36 |
| NG_009778.1:g.8814C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.928C>G MANE Select | ENSP00000264005.5:p.His310Asp | |
| ENST00000264005.9:c.928C>G | ENSP00000264005.5:p.His310Asp | |
| ENST00000570369.5:c.156-225C>G | ||
| ENST00000570980.1:c.712C>G | ENSP00000464651.1:p.His238Asp | |
| ENST00000573538.5:c.666C>G | ENSP00000463220.1:n.666C>G | |
| NM_000229.1:c.928C>G | NP_000220.1:p.His310Asp | |
| NM_000229.2:c.928C>G MANE Select | NP_000220.1:p.His310Asp |