Linked Data
ClinVar Variation Id:
45980
dbSNP Id:
rs111033491
ExAC:
10:73544146 G / A
gnomAD v2:
10-73544146-G-A
gnomAD v3:
10-71784389-G-A
gnomAD v4:
10-71784389-G-A
COSMIC:
COSM3709890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71784389G>A , CM000672.2:g.71784389G>A | GRCh38 |
| NC_000010.10:g.73544146G>A , CM000672.1:g.73544146G>A | GRCh37 |
| NC_000010.9:g.73214152G>A | NCBI36 |
| NG_008835.1:g.392443G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.5471G>A MANE Select | ENSP00000224721.9:p.Arg1824His | |
| ENST00000224721.10:c.5486G>A | ENSP00000224721.8:p.Arg1829His | |
| ENST00000622827.4:c.5471G>A | ENSP00000483211.1:p.Arg1824His | |
| NM_022124.5:c.5471G>A | NP_071407.4:p.Arg1824His | |
| XM_006717940.2:c.5666G>A | XP_006718003.1:p.Arg1889His | |
| XM_006717942.2:c.5600G>A | XP_006718005.1:p.Arg1867His | |
| XM_011540039.1:c.5663G>A | XP_011538341.1:p.Arg1888His | |
| XM_011540040.1:c.5660G>A | XP_011538342.1:p.Arg1887His | |
| XM_011540041.1:c.5606G>A | XP_011538343.1:p.Arg1869His | |
| XM_011540042.1:c.5666G>A | XP_011538344.1:p.Arg1889His | |
| XM_011540043.1:c.5666G>A | XP_011538345.1:p.Arg1889His | |
| XM_011540044.1:c.5531G>A | XP_011538346.1:p.Arg1844His | |
| XM_011540045.1:c.5666G>A | XP_011538347.1:p.Arg1889His | |
| XM_011540046.1:c.5126G>A | XP_011538348.1:p.Arg1709His | |
| XM_011540047.1:c.4484G>A | XP_011538349.1:p.Arg1495His | |
| XM_011540048.1:c.5666G>A | XP_011538350.1:p.Arg1889His | |
| XM_011540049.1:c.5666G>A | XP_011538351.1:p.Arg1889His | |
| XM_011540050.1:c.5666G>A | XP_011538352.1:p.Arg1889His | |
| XM_011540051.1:c.5666G>A | XP_011538353.1:p.Arg1889His | |
| XM_011540052.1:c.1994G>A | XP_011538354.1:p.Arg665His | |
| XM_011540053.1:c.5666G>A | XP_011538355.1:p.Arg1889His | |
| XR_945796.1:n.5909G>A | ||
| NM_022124.6:c.5471G>A MANE Select | NP_071407.4:p.Arg1824His |