Linked Data
ClinVar Variation Id:
534187
ClinVar RCV Id:
RCV000641654
dbSNP Id:
rs747639879
ExAC:
10:102566310 G / A
gnomAD v2:
10-102566310-G-A
gnomAD v3:
10-100806553-G-A
gnomAD v4:
10-100806553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100806553G>A , CM000672.2:g.100806553G>A | GRCh38 |
| NC_000010.10:g.102566310G>A , CM000672.1:g.102566310G>A | GRCh37 |
| NC_000010.9:g.102556300G>A | NCBI36 |
| NG_008680.1:g.65843G>A | |
| NG_008680.2:g.75845G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.833G>A | ENSP00000516729.1:p.Arg278His | |
| ENST00000707079.1:c.809G>A | ENSP00000516730.1:p.Arg270His | |
| ENST00000355243.8:c.740G>A MANE Select | ENSP00000347385.3:p.Arg247His | |
| ENST00000427256.6:c.740G>A | ENSP00000398652.2:p.Arg247His | |
| ENST00000679374.1:c.722G>A | ENSP00000506041.1:p.Arg241His | |
| ENST00000355243.7:c.740G>A | ENSP00000347385.2:p.Arg247His | |
| ENST00000361791.7:c.737G>A | ENSP00000355069.4:p.Arg246His | |
| ENST00000370296.6:c.740G>A | ENSP00000359319.3:p.Arg247His | |
| ENST00000428433.5:c.809G>A | ENSP00000396259.1:p.Arg270His | |
| ENST00000553492.5:n.461G>A | ||
| ENST00000554172.2:c.728G>A | ENSP00000452489.2:p.Arg243His | |
| ENST00000554363.2:n.455G>A | ||
| NM_000278.3:c.740G>A | NP_000269.2:p.Arg247His | |
| NM_001304569.1:c.833G>A | NP_001291498.1:p.Arg278His | |
| NM_003987.3:c.809G>A | NP_003978.2:p.Arg270His | |
| NM_003988.3:c.740G>A | NP_003979.2:p.Arg247His | |
| NM_003989.3:c.740G>A | NP_003980.2:p.Arg247His | |
| NM_003990.3:c.809G>A | NP_003981.2:p.Arg270His | |
| NM_000278.4:c.740G>A | NP_000269.3:p.Arg247His | |
| NM_003987.4:c.809G>A | NP_003978.3:p.Arg270His | |
| NM_003988.4:c.740G>A | NP_003979.2:p.Arg247His | |
| NM_003989.4:c.740G>A | NP_003980.3:p.Arg247His | |
| NM_003990.4:c.809G>A | NP_003981.3:p.Arg270His | |
| NM_000278.5:c.740G>A MANE Select | NP_000269.3:p.Arg247His | |
| NM_001304569.2:c.833G>A | NP_001291498.1:p.Arg278His | |
| NM_003987.5:c.809G>A | NP_003978.3:p.Arg270His | |
| NM_003988.5:c.740G>A | NP_003979.2:p.Arg247His | |
| NM_003989.5:c.740G>A | NP_003980.3:p.Arg247His | |
| NM_003990.5:c.809G>A | NP_003981.3:p.Arg270His |