Linked Data
ClinVar Variation Id:
2635326
ClinVar RCV Id:
RCV003393031
dbSNP Id:
rs2106197089
gnomAD v4:
2-224503740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503740C>T , CM000664.2:g.224503740C>T | GRCh38 |
| NC_000002.11:g.225368457C>T , CM000664.1:g.225368457C>T | GRCh37 |
| NC_000002.10:g.225076701C>T | NCBI36 |
| NG_032169.1:g.86658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1289G>A MANE Select | ENSP00000264414.4:p.Arg430His | |
| ENST00000264414.8:c.1289G>A | ENSP00000264414.4:p.Arg430His | |
| ENST00000344951.8:c.1091G>A | ENSP00000343601.4:p.Arg364His | |
| ENST00000409096.5:c.1217G>A | ENSP00000387200.1:p.Arg406His | |
| ENST00000409777.5:c.1217G>A | ENSP00000386525.1:p.Arg406His | |
| ENST00000481135.1:n.585G>A | ||
| ENST00000617432.4:c.13G>A | ENSP00000477851.1:p.Val5Ile | |
| NM_001257197.1:c.1091G>A | NP_001244126.1:p.Arg364His | |
| NM_001257198.1:c.1307G>A | NP_001244127.1:p.Arg436His | |
| NM_003590.4:c.1289G>A | NP_003581.1:p.Arg430His | |
| XM_006712800.2:c.1256G>A | XP_006712863.2:p.Arg419His | |
| XM_011511994.1:c.1142G>A | XP_011510296.1:p.Arg381His | |
| XM_011511995.1:c.1247G>A | XP_011510297.1:p.Arg416His | |
| XM_011511996.1:c.1097G>A | XP_011510298.1:p.Arg366His | |
| XM_011511997.1:c.989G>A | XP_011510299.1:p.Arg330His | |
| XM_011511994.3:c.1142G>A | XP_011510296.1:p.Arg381His | |
| XM_011511996.2:c.1097G>A | XP_011510298.1:p.Arg366His | |
| NM_003590.5:c.1289G>A MANE Select | NP_003581.1:p.Arg430His | |
| NM_001257198.2:c.1307G>A | NP_001244127.1:p.Arg436His | |
| NM_001257197.2:c.1091G>A | NP_001244126.1:p.Arg364His |