Linked Data
ClinVar Variation Id:
421702
dbSNP Id:
rs149478294
ExAC:
14:88904204 A / G
gnomAD v2:
14-88904204-A-G
gnomAD v3:
14-88437860-A-G
gnomAD v4:
14-88437860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437860A>G , CM000676.2:g.88437860A>G | GRCh38 |
| NC_000014.8:g.88904204A>G , CM000676.1:g.88904204A>G | GRCh37 |
| NC_000014.7:g.87973957A>G | NCBI36 |
| NG_021183.1:g.57217A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1238A>G MANE Select | ENSP00000377176.4:p.His413Arg | |
| ENST00000045347.11:c.1238A>G | ENSP00000045347.7:p.His413Arg | |
| ENST00000356583.9:c.1142A>G | ENSP00000348991.5:p.His381Arg | |
| ENST00000393545.8:c.1238A>G | ENSP00000377176.4:p.His413Arg | |
| ENST00000553303.1:n.668A>G | ||
| ENST00000553626.5:n.3017A>G | ||
| ENST00000554802.1:c.134A>G | ENSP00000451019.1:p.His45Arg | |
| ENST00000556406.5:c.211A>G | ||
| ENST00000556553.5:c.1142A>G | ENSP00000451128.1:p.His381Arg | |
| ENST00000556666.5:n.1785A>G | ||
| NM_001040428.3:c.1142A>G | NP_001035518.1:p.His381Arg | |
| NM_018418.4:c.1238A>G | NP_060888.2:p.His413Arg | |
| XM_005267851.1:c.1241A>G | XP_005267908.1:p.His414Arg | |
| XM_005267852.1:c.1145A>G | XP_005267909.1:p.His382Arg | |
| XM_005267854.1:c.1049A>G | XP_005267911.1:p.His350Arg | |
| XM_005267855.1:c.1049A>G | XP_005267912.1:p.His350Arg | |
| XM_006720204.1:c.1241A>G | XP_006720267.1:p.His414Arg | |
| XM_006720205.1:c.1241A>G | XP_006720268.1:p.His414Arg | |
| XM_011536951.1:c.1088A>G | XP_011535253.1:p.His363Arg | |
| XM_011536952.1:c.1070A>G | XP_011535254.1:p.His357Arg | |
| XM_011536953.1:c.923A>G | XP_011535255.1:p.His308Arg | |
| XM_005267852.2:c.1145A>G | XP_005267909.1:p.His382Arg | |
| XM_017021452.1:c.1085A>G | XP_016876941.1:p.His362Arg | |
| XM_017021453.1:c.1049A>G | XP_016876942.1:p.His350Arg | |
| XM_017021454.1:c.1046A>G | XP_016876943.1:p.His349Arg | |
| XM_017021455.1:c.1046A>G | XP_016876944.1:p.His349Arg | |
| XM_017021456.1:c.1046A>G | XP_016876945.1:p.His349Arg | |
| XM_017021457.1:c.920A>G | XP_016876946.1:p.His307Arg | |
| XM_024449660.1:c.1067A>G | XP_024305428.1:p.His356Arg | |
| NM_018418.5:c.1238A>G MANE Select | NP_060888.2:p.His413Arg | |
| NM_001040428.4:c.1142A>G | NP_001035518.1:p.His381Arg |