Linked Data
ClinVar Variation Id:
1073000
ClinVar RCV Id:
RCV002551545
dbSNP Id:
rs1466604623
gnomAD v2:
19-18979636-G-A
gnomAD v4:
19-18868827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868827G>A , CM000681.2:g.18868827G>A | GRCh38 |
| NC_000019.9:g.18979636G>A , CM000681.1:g.18979636G>A | GRCh37 |
| NC_000019.8:g.18840636G>A | NCBI36 |
| NG_012070.1:g.32318C>T | |
| NG_033056.1:g.32318C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.*1158C>T (CERS1) MANE Select | ENSP00000485308.1:n.*1158C>T | |
| ENST00000247005.8:c.889C>T (GDF1) MANE Select | ENSP00000247005.5:p.Gln297Ter | |
| ENST00000247005.7:c.889C>T (GDF1) | ENSP00000247005.5:p.Gln297Ter | |
| ENST00000623882.3:c.*1158C>T (CERS1) | ENSP00000485308.1:n.*1158C>T | |
| ENST00000623927.1:c.889C>T (CERS1) | ENSP00000485582.1:p.Gln297Ter | |
| NM_001492.5:c.889C>T (GDF1) | NP_001483.3:p.Gln297Ter | |
| NM_021267.4:c.*1158C>T (CERS1) | NP_067090.1:n.*1158C>T | |
| NM_001492.6:c.889C>T (GDF1) MANE Select | NP_001483.3:p.Gln297Ter | |
| NM_021267.5:c.*1158C>T (CERS1) MANE Select | NP_067090.1:n.*1158C>T | |
| NM_001387438.1:c.889C>T (GDF1) | NP_001374367.1:p.Gln297Ter | |
| NM_001387440.1:c.*1750C>T (CERS1) | NP_001374369.1:n.*1750C>T |