gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99345314 (NFE)
Genomes Max Group AF
0.99345314 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44376782C>T , CM000668.2:g.44376782C>T | GRCh38 |
| NC_000006.11:g.44344519C>T , CM000668.1:g.44344519C>T | GRCh37 |
| NC_000006.10:g.44452497C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674044.1:c.875-253C>T (SPATS1) MANE Select | ENSP00000501191.1:n.875-253C>T | |
| ENST00000288390.2:c.875-253C>T (SPATS1) | ENSP00000424400.1:n.875-253C>T | |
| ENST00000323108.12:c.875-253C>T (SPATS1) | ENSP00000437552.1:n.875-253C>T | |
| ENST00000505802.1:c.1591-253C>T | ||
| ENST00000506468.1:c.*753-253C>T (SPATS1) | ENSP00000424823.1:n.*753-253C>T | |
| NM_145026.3:c.875-253C>T (SPATS1) | NP_659463.1:n.875-253C>T | |
| NM_001372081.1:c.875-253C>T (SPATS1) MANE Select | NP_001359010.1:n.875-253C>T | |
| NM_145026.4:c.875-253C>T (SPATS1) | NP_659463.1:n.875-253C>T | |
| NM_001318876.2:c.946-65108C>T (POLR1C) | NP_001305805.1:n.946-65108C>T |