Linked Data
ClinVar Variation Id:
445494
ClinVar RCV Id:
RCV000515007
dbSNP Id:
rs62620015
ExAC:
1:43916939 A / C
gnomAD v2:
1-43916939-A-C
gnomAD v3:
1-43451268-A-C
gnomAD v4:
1-43451268-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43451268A>C , CM000663.2:g.43451268A>C | GRCh38 |
| NC_000001.10:g.43916939A>C , CM000663.1:g.43916939A>C | GRCh37 |
| NC_000001.9:g.43689526A>C | NCBI36 |
| NG_029091.1:g.66384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372430.9:c.804T>G (HYI) MANE Select | ENSP00000361507.4:p.Asp268Glu | |
| ENST00000562955.2:c.*788A>C (SZT2) | ENSP00000457168.1:n.*788A>C | |
| ENST00000634258.3:c.*788A>C (SZT2) MANE Select | ENSP00000489255.1:n.*788A>C | |
| ENST00000372425.8:c.804T>G (HYI) | ENSP00000361502.4:p.Asp268Glu | |
| ENST00000372427.5:n.2065T>G (HYI) | ||
| ENST00000372430.7:c.686T>G (HYI) | ||
| ENST00000372432.5:c.*42T>G (HYI) | ENSP00000361509.1:n.*42T>G | |
| ENST00000372433.5:c.682T>G (HYI) | ||
| ENST00000372434.5:c.879T>G (HYI) | ENSP00000361511.1:p.Asp293Glu | |
| ENST00000460536.1:n.2904A>C (SZT2) | ||
| ENST00000470662.5:c.530T>G (HYI) | ||
| ENST00000483618.1:n.370T>G (HYI) | ||
| ENST00000487366.5:c.527T>G (HYI) | ||
| ENST00000562955.1:c.10916A>C (SZT2) | ENSP00000457168.1:n.10916A>C | |
| ENST00000583037.5:c.*42T>G (HYI) | ENSP00000461969.2:n.*42T>G | |
| NM_001190880.2:c.804T>G (HYI) | NP_001177809.1:p.Asp268Glu | |
| NM_001243526.1:c.*42T>G (HYI) | NP_001230455.1:n.*42T>G | |
| NM_015284.3:c.*788A>C (SZT2) | NP_056099.3:n.*788A>C | |
| NM_031207.5:c.*42T>G (HYI) | NP_112484.3:n.*42T>G | |
| XM_005271239.3:c.879T>G (HYI) | XP_005271296.1:p.Asp293Glu | |
| XM_005271240.3:c.777T>G (HYI) | XP_005271297.1:p.Asp259Glu | |
| XM_006710937.2:c.817+160T>G (HYI) | XP_006711000.1:n.817+160T>G | |
| XM_011542222.1:c.*42T>G (HYI) | XP_011540524.1:n.*42T>G | |
| NM_001330526.1:c.879T>G (HYI) | NP_001317455.1:p.Asp293Glu | |
| NM_001365999.1:c.*788A>C (SZT2) MANE Select | NP_001352928.1:n.*788A>C | |
| XM_005271240.5:c.777T>G (HYI) | XP_005271297.1:p.Asp259Glu | |
| XM_006710937.3:c.817+160T>G (HYI) | XP_006711000.1:n.817+160T>G | |
| XM_011542222.3:c.*42T>G (HYI) | XP_011540524.1:n.*42T>G | |
| NM_001330526.2:c.879T>G (HYI) | NP_001317455.1:p.Asp293Glu | |
| NM_015284.4:c.*788A>C (SZT2) | NP_056099.3:n.*788A>C | |
| NM_031207.6:c.*42T>G (HYI) | NP_112484.3:n.*42T>G | |
| NM_001190880.3:c.804T>G (HYI) MANE Select | NP_001177809.1:p.Asp268Glu | |
| NM_001243526.2:c.*42T>G (HYI) | NP_001230455.1:n.*42T>G |