Linked Data
ClinVar Variation Id:
88732
dbSNP Id:
rs397518470
gnomAD v4:
16-9840745-C-T
COSMIC:
COSM5363591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9840745C>T , CM000678.2:g.9840745C>T | GRCh38 |
| NC_000016.9:g.9934602C>T , CM000678.1:g.9934602C>T | GRCh37 |
| NC_000016.8:g.9842103C>T | NCBI36 |
| NG_011812.1:g.347010G>A | |
| NG_011812.2:g.347010G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.1553G>A MANE Select | ENSP00000332549.3:p.Arg518His | |
| ENST00000535259.6:c.1082G>A | ENSP00000441572.3:p.Arg361His | |
| ENST00000636273.2:n.1146G>A | ||
| ENST00000674742.1:c.1082G>A | ENSP00000502200.1:p.Arg361His | |
| ENST00000675189.1:n.2037G>A | ||
| ENST00000675398.1:c.1553G>A | ENSP00000502752.1:p.Arg518His | |
| ENST00000330684.3:c.1553G>A | ENSP00000332549.3:p.Arg518His | |
| ENST00000396573.6:c.1553G>A | ENSP00000379818.2:p.Arg518His | |
| ENST00000396575.6:c.1142G>A | ENSP00000379820.3:p.Arg381His | |
| ENST00000461292.3:n.1192G>A | ||
| ENST00000535259.5:c.1142G>A | ENSP00000441572.2:p.Arg381His | |
| ENST00000562109.5:c.1553G>A | ENSP00000454998.1:p.Arg518His | |
| NM_000833.4:c.1553G>A | NP_000824.1:p.Arg518His | |
| NM_001134407.2:c.1553G>A | NP_001127879.1:p.Arg518His | |
| NM_001134408.2:c.1553G>A | NP_001127880.1:p.Arg518His | |
| XM_011522456.1:c.1394G>A | XP_011520758.1:p.Arg465His | |
| XM_011522457.1:c.1295G>A | XP_011520759.1:p.Arg432His | |
| XM_011522458.1:c.1082G>A | XP_011520760.1:p.Arg361His | |
| XM_011522459.1:c.1082G>A | XP_011520761.1:p.Arg361His | |
| XM_011522460.1:c.1082G>A | XP_011520762.1:p.Arg361His | |
| XM_011522461.1:c.1553G>A | XP_011520763.1:p.Arg518His | |
| XM_011522458.3:c.1082G>A | XP_011520760.1:p.Arg361His | |
| XM_011522461.3:c.1553G>A | XP_011520763.1:p.Arg518His | |
| XM_017023172.1:c.1709G>A | XP_016878661.1:p.Arg570His | |
| XM_017023173.1:c.1709G>A | XP_016878662.1:p.Arg570His | |
| NM_001134407.3:c.1553G>A MANE Select | NP_001127879.1:p.Arg518His | |
| NM_000833.5:c.1553G>A | NP_000824.1:p.Arg518His |