Linked Data
ClinVar Variation Id:
6747
dbSNP Id:
rs121434422
gnomAD v2:
19-18979844-G-T
gnomAD v3:
19-18869035-G-T
gnomAD v4:
19-18869035-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18869035G>T , CM000681.2:g.18869035G>T | GRCh38 |
| NC_000019.9:g.18979844G>T , CM000681.1:g.18979844G>T | GRCh37 |
| NC_000019.8:g.18840844G>T | NCBI36 |
| NG_012070.1:g.32110C>A | |
| NG_033056.1:g.32110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.*950C>A (CERS1) MANE Select | ENSP00000485308.1:n.*950C>A | |
| ENST00000247005.8:c.681C>A (GDF1) MANE Select | ENSP00000247005.5:p.Cys227Ter | |
| ENST00000247005.7:c.681C>A (GDF1) | ENSP00000247005.5:p.Cys227Ter | |
| ENST00000623882.3:c.*950C>A (CERS1) | ENSP00000485308.1:n.*950C>A | |
| ENST00000623927.1:c.681C>A (CERS1) | ENSP00000485582.1:p.Cys227Ter | |
| NM_001492.5:c.681C>A (GDF1) | NP_001483.3:p.Cys227Ter | |
| NM_021267.4:c.*950C>A (CERS1) | NP_067090.1:n.*950C>A | |
| NM_001492.6:c.681C>A (GDF1) MANE Select | NP_001483.3:p.Cys227Ter | |
| NM_021267.5:c.*950C>A (CERS1) MANE Select | NP_067090.1:n.*950C>A | |
| NM_001387438.1:c.681C>A (GDF1) | NP_001374367.1:p.Cys227Ter | |
| NM_001387440.1:c.*1542C>A (CERS1) | NP_001374369.1:n.*1542C>A |