Linked Data
dbSNP Id:
rs987069366
gnomAD v2:
11-9163591-A-T
gnomAD v3:
11-9142044-A-T
gnomAD v4:
11-9142044-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142044A>T , CM000673.2:g.9142044A>T | GRCh38 |
| NC_000011.9:g.9163591A>T , CM000673.1:g.9163591A>T | GRCh37 |
| NC_000011.8:g.9120167A>T | NCBI36 |
| NG_053019.1:g.128292T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3576T>A MANE Select | ENSP00000328524.3:p.His1192Gln | |
| ENST00000525784.6:n.1438T>A | ||
| ENST00000530780.2:c.*3402T>A | ENSP00000433925.1:n.*3402T>A | |
| ENST00000531747.2:n.3247T>A | ||
| ENST00000679446.1:n.3497T>A | ||
| ENST00000679458.1:n.4977T>A | ||
| ENST00000679460.1:n.4638T>A | ||
| ENST00000679568.1:c.3576T>A | ENSP00000505860.1:p.His1192Gln | |
| ENST00000679745.1:n.4081T>A | ||
| ENST00000679773.1:n.2737T>A | ||
| ENST00000679926.1:n.4878T>A | ||
| ENST00000679999.1:c.*633T>A | ENSP00000505198.1:n.*633T>A | |
| ENST00000680252.1:c.3243T>A | ||
| ENST00000680294.1:c.3369T>A | ENSP00000506113.1:p.His1123Gln | |
| ENST00000680358.1:n.2875T>A | ||
| ENST00000680470.1:c.*1357T>A | ENSP00000505975.1:n.*1357T>A | |
| ENST00000680554.1:c.*109T>A | ENSP00000505621.1:n.*109T>A | |
| ENST00000680576.1:n.5052T>A | ||
| ENST00000680599.1:n.3617T>A | ||
| ENST00000680742.1:c.*109T>A | ENSP00000505206.1:n.*109T>A | |
| ENST00000680791.1:n.2460T>A | ||
| ENST00000680885.1:n.5278T>A | ||
| ENST00000681158.1:c.3160T>A | ||
| ENST00000681203.1:c.3504T>A | ENSP00000506456.1:p.His1168Gln | |
| ENST00000681371.1:n.3448T>A | ||
| ENST00000681425.1:n.4054T>A | ||
| ENST00000681639.1:n.1855T>A | ||
| ENST00000328194.7:c.3576T>A | ENSP00000328524.3:p.His1192Gln | |
| ENST00000525784.5:c.512T>A | ||
| ENST00000527700.5:n.3138T>A | ||
| ENST00000528725.5:c.272T>A | ||
| ENST00000529977.5:n.1477T>A | ||
| ENST00000530044.5:c.3576T>A | ENSP00000435866.1:p.His1192Gln | |
| ENST00000531747.1:c.812T>A | ||
| ENST00000533737.5:c.239T>A | ||
| NM_001243254.1:c.3576T>A | NP_001230183.1:p.His1192Gln | |
| NM_015213.3:c.3576T>A | NP_056028.2:p.His1192Gln | |
| XM_005252832.1:c.3576T>A | XP_005252889.1:p.His1192Gln | |
| XM_011519952.1:c.3576T>A | XP_011518254.1:p.His1192Gln | |
| XM_011519953.1:c.1674T>A | XP_011518255.1:p.His558Gln | |
| XR_242782.2:n.3758T>A | ||
| XR_930851.1:n.3758T>A | ||
| NM_001348749.1:c.3504T>A | NP_001335678.1:p.His1168Gln | |
| NM_001348750.1:c.3288T>A | NP_001335679.1:p.His1096Gln | |
| NR_145966.2:n.3750T>A | ||
| NM_015213.4:c.3576T>A MANE Select | NP_056028.2:p.His1192Gln | |
| NM_001243254.2:c.3576T>A | NP_001230183.1:p.His1192Gln | |
| NM_001348749.2:c.3504T>A | NP_001335678.1:p.His1168Gln | |
| NM_001348750.2:c.3288T>A | NP_001335679.1:p.His1096Gln |