Linked Data
ClinVar Variation Id:
313702
dbSNP Id:
rs200787781
ExAC:
14:65234054 C / T
gnomAD v2:
14-65234054-C-T
gnomAD v3:
14-64767336-C-T
gnomAD v4:
14-64767336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64767336C>T , CM000676.2:g.64767336C>T | GRCh38 |
| NC_000014.8:g.65234054C>T , CM000676.1:g.65234054C>T | GRCh37 |
| NC_000014.7:g.64303807C>T | NCBI36 |
| NG_016202.1:g.60813G>A | |
| NG_016202.2:g.117557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389720.4:c.6236G>A | ENSP00000374370.4:p.Arg2079His | |
| ENST00000644917.1:c.6236G>A MANE Select | ENSP00000495909.1:p.Arg2079His | |
| ENST00000389720.3:c.6219+327G>A | ENSP00000374370.3:n.6219+327G>A | |
| ENST00000389721.9:c.6236G>A | ENSP00000374371.5:p.Arg2079His | |
| ENST00000389722.7:c.6236G>A | ENSP00000374372.3:p.Arg2079His | |
| ENST00000542694.2:n.568G>A | ||
| ENST00000553938.5:c.2231G>A | ENSP00000451324.1:p.Arg744His | |
| ENST00000556626.5:c.6236G>A | ENSP00000451752.1:p.Arg2079His | |
| NM_000347.5:c.6236G>A | NP_000338.3:p.Arg2079His | |
| NM_001024858.2:c.6236G>A | NP_001020029.1:p.Arg2079His | |
| XM_005268023.3:c.6236G>A | XP_005268080.1:p.Arg2079His | |
| NM_001024858.3:c.6236G>A | NP_001020029.1:p.Arg2079His | |
| NM_001355436.2:c.6236G>A MANE Select | NP_001342365.1:p.Arg2079His | |
| NM_001355437.2:c.6236G>A | NP_001342366.1:p.Arg2079His | |
| XM_017021612.2:c.6236G>A | XP_016877101.1:p.Arg2079His | |
| XM_024449699.1:c.6236G>A | XP_024305467.1:p.Arg2079His | |
| NM_001024858.4:c.6236G>A | NP_001020029.1:p.Arg2079His |