Linked Data
ClinVar Variation Id:
40118
ClinVar RCV Id:
RCV000176967
dbSNP Id:
rs63751297
PubMed:
PMID:20301412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3483497A>G , CM000679.2:g.3483497A>G | GRCh38 |
| NC_000017.10:g.3386791A>G , CM000679.1:g.3386791A>G | GRCh37 |
| NC_000017.9:g.3333541A>G | NCBI36 |
| NG_008399.1:g.14388A>G | |
| NG_008399.2:g.14852A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263080.3:c.433-2A>G (ASPA) MANE Select | ENSP00000263080.2:n.433-2A>G | |
| ENST00000263080.2:c.433-2A>G (ASPA) | ENSP00000263080.2:n.433-2A>G | |
| ENST00000456349.6:c.433-2A>G (ASPA) | ENSP00000409976.2:n.433-2A>G | |
| ENST00000541913.5:c.-73-14099T>C (SPATA22) | ENSP00000441920.1:n.-73-14099T>C | |
| ENST00000570318.1:c.-73-14099T>C (SPATA22) | ENSP00000459147.1:n.-73-14099T>C | |
| ENST00000571278.1:c.*167-2A>G (ASPA) | ENSP00000461358.1:n.*167-2A>G | |
| NM_000049.2:c.433-2A>G (ASPA) | NP_000040.1:n.433-2A>G | |
| NM_001128085.1:c.433-2A>G (ASPA) | NP_001121557.1:n.433-2A>G | |
| XM_005256829.1:c.-73-14099T>C (SPATA22) | XP_005256886.1:n.-73-14099T>C | |
| XM_005256830.1:c.-73-14099T>C (SPATA22) | XP_005256887.1:n.-73-14099T>C | |
| XM_006721527.2:c.433-2A>G (ASPA) | XP_006721590.1:n.433-2A>G | |
| XR_934026.1:n.608-2A>G (ASPA) | ||
| NM_001321336.1:c.-73-14099T>C (SPATA22) | NP_001308265.1:n.-73-14099T>C | |
| NM_001321337.1:c.-73-14099T>C (SPATA22) | NP_001308266.1:n.-73-14099T>C | |
| XM_017024661.1:c.433-2A>G (ASPA) | XP_016880150.1:n.433-2A>G | |
| XM_024450764.1:c.433-2A>G (ASPA) | XP_024306532.1:n.433-2A>G | |
| XR_934026.2:n.608-2A>G (ASPA) | ||
| NM_000049.3:c.433-2A>G (ASPA) | NP_000040.1:n.433-2A>G | |
| NM_000049.4:c.433-2A>G (ASPA) MANE Select | NP_000040.1:n.433-2A>G | |
| NM_001321336.2:c.-73-14099T>C (SPATA22) | NP_001308265.1:n.-73-14099T>C | |
| NM_001321337.2:c.-73-14099T>C (SPATA22) | NP_001308266.1:n.-73-14099T>C |