Linked Data
ClinVar Variation Id:
2622030
ClinVar RCV Id:
RCV003386644
dbSNP Id:
rs782125363
ExAC:
8:144810753 C / T
gnomAD v2:
8-144810753-C-T
gnomAD v3:
8-143728583-C-T
gnomAD v4:
8-143728583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728583C>T , CM000670.2:g.143728583C>T | GRCh38 |
| NC_000008.10:g.144810753C>T , CM000670.1:g.144810753C>T | GRCh37 |
| NC_000008.9:g.144882741C>T | NCBI36 |
| NG_016652.1:g.10162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.878G>A MANE Select | ENSP00000373565.3:p.Arg293His | |
| ENST00000650760.1:c.1481G>A | ENSP00000499217.1:p.Arg494His | |
| ENST00000388913.3:c.878G>A | ENSP00000373565.3:p.Arg293His | |
| ENST00000395103.2:c.58G>A | ||
| NM_198488.3:c.878G>A | NP_940890.3:p.Arg293His | |
| XM_005250887.2:c.935G>A | XP_005250944.1:p.Arg312His | |
| XM_005250888.2:c.896G>A | XP_005250945.1:p.Arg299His | |
| XM_005250889.2:c.878G>A | XP_005250946.1:p.Arg293His | |
| XM_011516980.1:c.1199G>A | XP_011515282.1:p.Arg400His | |
| XM_011516981.1:c.1046G>A | XP_011515283.1:p.Arg349His | |
| XM_005250887.3:c.935G>A | XP_005250944.1:p.Arg312His | |
| XM_005250888.3:c.896G>A | XP_005250945.1:p.Arg299His | |
| XM_005250889.3:c.878G>A | XP_005250946.1:p.Arg293His | |
| XM_011516980.2:c.1481G>A | XP_011515282.2:p.Arg494His | |
| XM_011516981.2:c.1046G>A | XP_011515283.1:p.Arg349His | |
| XM_024447131.1:c.878G>A | XP_024302899.1:p.Arg293His | |
| NM_198488.4:c.878G>A | NP_940890.3:p.Arg293His | |
| NM_198488.5:c.878G>A MANE Select | NP_940890.4:p.Arg293His |