Linked Data
ClinVar Variation Id:
445670
ClinVar RCV Id:
RCV000513965
dbSNP Id:
rs111686948
ExAC:
1:43917601 C / T
gnomAD v2:
1-43917601-C-T
gnomAD v3:
1-43451930-C-T
gnomAD v4:
1-43451930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43451930C>T , CM000663.2:g.43451930C>T | GRCh38 |
| NC_000001.10:g.43917601C>T , CM000663.1:g.43917601C>T | GRCh37 |
| NC_000001.9:g.43690188C>T | NCBI36 |
| NG_029091.1:g.67046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372430.9:c.505+5G>A (HYI) MANE Select | ENSP00000361507.4:n.505+5G>A | |
| ENST00000562955.2:c.*1450C>T (SZT2) | ENSP00000457168.1:n.*1450C>T | |
| ENST00000634258.3:c.*1450C>T (SZT2) MANE Select | ENSP00000489255.1:n.*1450C>T | |
| ENST00000372425.8:c.505+5G>A (HYI) | ENSP00000361502.4:n.505+5G>A | |
| ENST00000372427.5:n.1784+5G>A (HYI) | ||
| ENST00000372430.7:c.387+5G>A (HYI) | ||
| ENST00000372432.5:c.505+5G>A (HYI) | ENSP00000361509.1:n.505+5G>A | |
| ENST00000372433.5:c.401+5G>A (HYI) | ||
| ENST00000372434.5:c.580+5G>A (HYI) | ENSP00000361511.1:n.580+5G>A | |
| ENST00000460536.1:n.3566C>T (SZT2) | ||
| ENST00000470662.5:c.261+5G>A (HYI) | ||
| ENST00000486909.1:c.505+5G>A (HYI) | ENSP00000428399.1:n.505+5G>A | |
| ENST00000487366.5:c.276+5G>A (HYI) | ||
| ENST00000496142.1:n.285+5G>A (HYI) | ||
| ENST00000562955.1:c.11578C>T (SZT2) | ENSP00000457168.1:n.11578C>T | |
| ENST00000583037.5:c.580+5G>A (HYI) | ENSP00000461969.2:n.580+5G>A | |
| NM_001190880.2:c.505+5G>A (HYI) | NP_001177809.1:n.505+5G>A | |
| NM_001243526.1:c.580+5G>A (HYI) | NP_001230455.1:n.580+5G>A | |
| NM_015284.3:c.*1450C>T (SZT2) | NP_056099.3:n.*1450C>T | |
| NM_031207.5:c.505+5G>A (HYI) | NP_112484.3:n.505+5G>A | |
| XM_005271239.3:c.580+5G>A (HYI) | XP_005271296.1:n.580+5G>A | |
| XM_005271240.3:c.478+5G>A (HYI) | XP_005271297.1:n.478+5G>A | |
| XM_006710937.2:c.580+5G>A (HYI) | XP_006711000.1:n.580+5G>A | |
| XM_011542222.1:c.478+5G>A (HYI) | XP_011540524.1:n.478+5G>A | |
| NM_001330526.1:c.580+5G>A (HYI) | NP_001317455.1:n.580+5G>A | |
| NM_001365999.1:c.*1450C>T (SZT2) MANE Select | NP_001352928.1:n.*1450C>T | |
| XM_005271240.5:c.478+5G>A (HYI) | XP_005271297.1:n.478+5G>A | |
| XM_006710937.3:c.580+5G>A (HYI) | XP_006711000.1:n.580+5G>A | |
| XM_011542222.3:c.478+5G>A (HYI) | XP_011540524.1:n.478+5G>A | |
| NM_001330526.2:c.580+5G>A (HYI) | NP_001317455.1:n.580+5G>A | |
| NM_015284.4:c.*1450C>T (SZT2) | NP_056099.3:n.*1450C>T | |
| NM_031207.6:c.505+5G>A (HYI) | NP_112484.3:n.505+5G>A | |
| NM_001190880.3:c.505+5G>A (HYI) MANE Select | NP_001177809.1:n.505+5G>A | |
| NM_001243526.2:c.580+5G>A (HYI) | NP_001230455.1:n.580+5G>A |