Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417118G>C , CM000678.2:g.23417118G>C | GRCh38 |
| NC_000016.9:g.23428439G>C , CM000678.1:g.23428439G>C | GRCh37 |
| NC_000016.8:g.23335940G>C | NCBI36 |
| NG_021287.1:g.41074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.1141C>G MANE Select | ENSP00000305442.5:p.His381Asp | |
| ENST00000307149.9:c.1141C>G | ENSP00000305442.5:p.His381Asp | |
| ENST00000567821.1:n.176C>G | ||
| NM_153603.3:c.1141C>G | NP_705831.1:p.His381Asp | |
| XR_429680.1:n.1357C>G | ||
| XM_017023870.1:c.946C>G | XP_016879359.1:p.His316Asp | |
| XR_002957852.1:n.1362C>G | ||
| XR_429680.2:n.1362C>G | ||
| NM_153603.4:c.1141C>G MANE Select | NP_705831.1:p.His381Asp |