Linked Data
ClinVar Variation Id:
2184493
ClinVar RCV Id:
RCV002603328
dbSNP Id:
rs140357187
ExAC:
17:3386830 T / C
gnomAD v2:
17-3386830-T-C
gnomAD v3:
17-3483536-T-C
gnomAD v4:
17-3483536-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3483536T>C , CM000679.2:g.3483536T>C | GRCh38 |
| NC_000017.10:g.3386830T>C , CM000679.1:g.3386830T>C | GRCh37 |
| NC_000017.9:g.3333580T>C | NCBI36 |
| NG_008399.1:g.14427T>C | |
| NG_008399.2:g.14891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263080.3:c.470T>C (ASPA) MANE Select | ENSP00000263080.2:p.Ile157Thr | |
| ENST00000263080.2:c.470T>C (ASPA) | ENSP00000263080.2:p.Ile157Thr | |
| ENST00000456349.6:c.470T>C (ASPA) | ENSP00000409976.2:p.Ile157Thr | |
| ENST00000541913.5:c.-73-14138A>G (SPATA22) | ENSP00000441920.1:n.-73-14138A>G | |
| ENST00000570318.1:c.-73-14138A>G (SPATA22) | ENSP00000459147.1:n.-73-14138A>G | |
| ENST00000571278.1:c.*204T>C (ASPA) | ENSP00000461358.1:n.*204T>C | |
| NM_000049.2:c.470T>C (ASPA) | NP_000040.1:p.Ile157Thr | |
| NM_001128085.1:c.470T>C (ASPA) | NP_001121557.1:p.Ile157Thr | |
| XM_005256829.1:c.-73-14138A>G (SPATA22) | XP_005256886.1:n.-73-14138A>G | |
| XM_005256830.1:c.-73-14138A>G (SPATA22) | XP_005256887.1:n.-73-14138A>G | |
| XM_006721527.2:c.470T>C (ASPA) | XP_006721590.1:p.Ile157Thr | |
| XR_934026.1:n.645T>C (ASPA) | ||
| NM_001321336.1:c.-73-14138A>G (SPATA22) | NP_001308265.1:n.-73-14138A>G | |
| NM_001321337.1:c.-73-14138A>G (SPATA22) | NP_001308266.1:n.-73-14138A>G | |
| XM_017024661.1:c.470T>C (ASPA) | XP_016880150.1:p.Ile157Thr | |
| XM_024450764.1:c.470T>C (ASPA) | XP_024306532.1:p.Ile157Thr | |
| XR_934026.2:n.645T>C (ASPA) | ||
| NM_000049.3:c.470T>C (ASPA) | NP_000040.1:p.Ile157Thr | |
| NM_000049.4:c.470T>C (ASPA) MANE Select | NP_000040.1:p.Ile157Thr | |
| NM_001321336.2:c.-73-14138A>G (SPATA22) | NP_001308265.1:n.-73-14138A>G | |
| NM_001321337.2:c.-73-14138A>G (SPATA22) | NP_001308266.1:n.-73-14138A>G |