Linked Data
ClinVar Variation Id:
220404
dbSNP Id:
rs864622513
gnomAD v2:
19-18979600-A-G
gnomAD v3:
19-18868791-A-G
gnomAD v4:
19-18868791-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868791A>G , CM000681.2:g.18868791A>G | GRCh38 |
| NC_000019.9:g.18979600A>G , CM000681.1:g.18979600A>G | GRCh37 |
| NC_000019.8:g.18840600A>G | NCBI36 |
| NG_012070.1:g.32354T>C | |
| NG_033056.1:g.32354T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*1194T>C (CERS1) MANE Select | ENSP00000485308.1:n.*1194T>C | |
| ENST00000247005.8:c.925T>C (GDF1) MANE Select | ENSP00000247005.5:p.Ser309Pro | |
| ENST00000247005.7:c.925T>C (GDF1) | ENSP00000247005.5:p.Ser309Pro | |
| ENST00000623882.3:c.*1194T>C (CERS1) | ENSP00000485308.1:n.*1194T>C | |
| ENST00000623927.1:c.925T>C (CERS1) | ENSP00000485582.1:p.Ser309Pro | |
| NM_001492.5:c.925T>C (GDF1) | NP_001483.3:p.Ser309Pro | |
| NM_021267.4:c.*1194T>C (CERS1) | NP_067090.1:n.*1194T>C | |
| NM_001492.6:c.925T>C (GDF1) MANE Select | NP_001483.3:p.Ser309Pro | |
| NM_021267.5:c.*1194T>C (CERS1) MANE Select | NP_067090.1:n.*1194T>C | |
| NM_001387438.1:c.925T>C (GDF1) | NP_001374367.1:p.Ser309Pro | |
| NM_001387440.1:c.*1786T>C (CERS1) | NP_001374369.1:n.*1786T>C |