Linked Data
ClinVar Variation Id:
6748
dbSNP Id:
rs121434423
gnomAD v2:
19-18979725-C-T
gnomAD v3:
19-18868916-C-T
gnomAD v4:
19-18868916-C-T
PubMed:
PMID:17924340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868916C>T , CM000681.2:g.18868916C>T | GRCh38 |
| NC_000019.9:g.18979725C>T , CM000681.1:g.18979725C>T | GRCh37 |
| NC_000019.8:g.18840725C>T | NCBI36 |
| NG_012070.1:g.32229G>A | |
| NG_033056.1:g.32229G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*1069G>A (CERS1) MANE Select | ENSP00000485308.1:n.*1069G>A | |
| ENST00000247005.8:c.800G>A (GDF1) MANE Select | ENSP00000247005.5:p.Cys267Tyr | |
| ENST00000247005.7:c.800G>A (GDF1) | ENSP00000247005.5:p.Cys267Tyr | |
| ENST00000623882.3:c.*1069G>A (CERS1) | ENSP00000485308.1:n.*1069G>A | |
| ENST00000623927.1:c.800G>A (CERS1) | ENSP00000485582.1:p.Cys267Tyr | |
| NM_001492.5:c.800G>A (GDF1) | NP_001483.3:p.Cys267Tyr | |
| NM_021267.4:c.*1069G>A (CERS1) | NP_067090.1:n.*1069G>A | |
| NM_001492.6:c.800G>A (GDF1) MANE Select | NP_001483.3:p.Cys267Tyr | |
| NM_021267.5:c.*1069G>A (CERS1) MANE Select | NP_067090.1:n.*1069G>A | |
| NM_001387438.1:c.800G>A (GDF1) | NP_001374367.1:p.Cys267Tyr | |
| NM_001387440.1:c.*1661G>A (CERS1) | NP_001374369.1:n.*1661G>A |