Linked Data
ClinVar Variation Id:
2178883
ClinVar RCV Id:
RCV002591607
dbSNP Id:
rs759102529
ExAC:
11:9225587 C / T
gnomAD v2:
11-9225587-C-T
gnomAD v3:
11-9204040-C-T
gnomAD v4:
11-9204040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9204040C>T , CM000673.2:g.9204040C>T | GRCh38 |
| NC_000011.9:g.9225587C>T , CM000673.1:g.9225587C>T | GRCh37 |
| NC_000011.8:g.9182163C>T | NCBI36 |
| NG_053019.1:g.66296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.569G>A MANE Select | ENSP00000328524.3:p.Arg190His | |
| ENST00000530780.2:c.*395G>A | ENSP00000433925.1:n.*395G>A | |
| ENST00000530867.2:n.358G>A | ||
| ENST00000532696.2:n.492G>A | ||
| ENST00000679446.1:n.490G>A | ||
| ENST00000679460.1:n.358G>A | ||
| ENST00000679568.1:c.569G>A | ENSP00000505860.1:p.Arg190His | |
| ENST00000679745.1:n.358G>A | ||
| ENST00000679999.1:c.569G>A | ENSP00000505198.1:p.Arg190His | |
| ENST00000680252.1:c.358G>A | ||
| ENST00000680294.1:c.569G>A | ENSP00000506113.1:p.Arg190His | |
| ENST00000680470.1:c.569G>A | ENSP00000505975.1:p.Arg190His | |
| ENST00000680554.1:c.281G>A | ENSP00000505621.1:p.Arg94His | |
| ENST00000680576.1:n.358G>A | ||
| ENST00000680599.1:n.486G>A | ||
| ENST00000680742.1:c.569G>A | ENSP00000505206.1:p.Arg190His | |
| ENST00000680885.1:n.490G>A | ||
| ENST00000681158.1:c.358G>A | ||
| ENST00000681173.1:n.358G>A | ||
| ENST00000681203.1:c.497G>A | ENSP00000506456.1:p.Arg166His | |
| ENST00000681425.1:n.490G>A | ||
| ENST00000681915.1:n.358G>A | ||
| ENST00000328194.7:c.569G>A | ENSP00000328524.3:p.Arg190His | |
| ENST00000526707.5:c.497G>A | ENSP00000436780.1:p.Arg166His | |
| ENST00000530044.5:c.569G>A | ENSP00000435866.1:p.Arg190His | |
| ENST00000532696.1:n.324G>A | ||
| NM_001243254.1:c.569G>A | NP_001230183.1:p.Arg190His | |
| NM_015213.3:c.569G>A | NP_056028.2:p.Arg190His | |
| XM_005252832.1:c.569G>A | XP_005252889.1:p.Arg190His | |
| XM_011519952.1:c.569G>A | XP_011518254.1:p.Arg190His | |
| XR_242782.2:n.834G>A | ||
| XR_930851.1:n.834G>A | ||
| XR_930852.1:n.834G>A | ||
| XR_930853.1:n.834G>A | ||
| NM_001348749.1:c.497G>A | NP_001335678.1:p.Arg166His | |
| NM_001348750.1:c.281G>A | NP_001335679.1:p.Arg94His | |
| NR_145966.2:n.826G>A | ||
| NM_015213.4:c.569G>A MANE Select | NP_056028.2:p.Arg190His | |
| NM_001243254.2:c.569G>A | NP_001230183.1:p.Arg190His | |
| NM_001348749.2:c.497G>A | NP_001335678.1:p.Arg166His | |
| NM_001348750.2:c.281G>A | NP_001335679.1:p.Arg94His |