Linked Data
dbSNP Id:
rs761002300
ExAC:
3:49064404 C / T
gnomAD v2:
3-49064404-C-T
gnomAD v3:
3-49026971-C-T
gnomAD v4:
3-49026971-C-T
COSMIC:
COSM1210645
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026971C>T , CM000665.2:g.49026971C>T | GRCh38 |
| NC_000003.11:g.49064404C>T , CM000665.1:g.49064404C>T | GRCh37 |
| NC_000003.10:g.49039408C>T | NCBI36 |
| NG_012091.1:g.7472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2648G>A | ENSP00000515567.1:p.Arg883His | |
| ENST00000703937.1:c.*1709G>A | ENSP00000515568.1:n.*1709G>A | |
| ENST00000326739.9:c.608G>A MANE Select | ENSP00000321584.4:p.Arg203His | |
| ENST00000429182.6:c.608G>A | ENSP00000393525.2:p.Arg203His | |
| ENST00000442157.2:c.533G>A | ENSP00000403502.2:p.Arg178His | |
| ENST00000462980.2:n.1123G>A | ||
| ENST00000472328.2:n.674G>A | ||
| ENST00000491610.2:n.495G>A | ||
| ENST00000676607.1:n.904G>A | ||
| ENST00000676627.1:n.1338G>A | ||
| ENST00000676708.1:n.1815G>A | ||
| ENST00000676864.1:n.1684G>A | ||
| ENST00000677010.1:c.644G>A | ENSP00000503089.1:p.Arg215His | |
| ENST00000677108.1:n.2441G>A | ||
| ENST00000677168.1:n.1080G>A | ||
| ENST00000677185.1:n.1098G>A | ||
| ENST00000677205.1:n.1319G>A | ||
| ENST00000677344.1:n.1809G>A | ||
| ENST00000677480.1:c.*285G>A | ENSP00000504378.1:n.*285G>A | |
| ENST00000677519.1:n.1318G>A | ||
| ENST00000677593.1:n.1091G>A | ||
| ENST00000677740.1:n.2040G>A | ||
| ENST00000677991.1:n.1781G>A | ||
| ENST00000678001.1:n.1101G>A | ||
| ENST00000678085.1:n.1091G>A | ||
| ENST00000678177.1:n.2384G>A | ||
| ENST00000678603.1:n.1686G>A | ||
| ENST00000678724.1:c.533G>A | ENSP00000503874.1:p.Arg178His | |
| ENST00000678920.1:n.766G>A | ||
| ENST00000679019.1:n.1305G>A | ||
| ENST00000679117.1:c.*423G>A | ENSP00000503240.1:n.*423G>A | |
| ENST00000679339.1:n.1376G>A | ||
| ENST00000326739.8:c.608G>A | ENSP00000321584.4:p.Arg203His | |
| ENST00000429182.5:c.402G>A | ||
| ENST00000442157.1:c.533G>A | ENSP00000403502.1:p.Arg178His | |
| ENST00000462980.1:n.510G>A | ||
| ENST00000491610.1:n.495G>A | ||
| NM_000884.2:c.608G>A | NP_000875.2:p.Arg203His | |
| XM_006713128.2:c.818G>A | XP_006713191.1:p.Arg273His | |
| XM_006713128.3:c.818G>A | XP_006713191.1:p.Arg273His | |
| XM_017006349.1:c.743G>A | XP_016861838.1:p.Arg248His | |
| XM_017006350.1:c.743G>A | XP_016861839.1:p.Arg248His | |
| NM_000884.3:c.608G>A MANE Select | NP_000875.2:p.Arg203His |