Linked Data
ClinVar Variation Id:
2620645
ClinVar RCV Id:
RCV004363436
dbSNP Id:
rs1022132445
gnomAD v2:
19-18979950-G-A
gnomAD v3:
19-18869141-G-A
gnomAD v4:
19-18869141-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18869141G>A , CM000681.2:g.18869141G>A | GRCh38 |
| NC_000019.9:g.18979950G>A , CM000681.1:g.18979950G>A | GRCh37 |
| NC_000019.8:g.18840950G>A | NCBI36 |
| NG_012070.1:g.32004C>T | |
| NG_033056.1:g.32004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.*844C>T (CERS1) MANE Select | ENSP00000485308.1:n.*844C>T | |
| ENST00000247005.8:c.575C>T (GDF1) MANE Select | ENSP00000247005.5:p.Pro192Leu | |
| ENST00000247005.7:c.575C>T (GDF1) | ENSP00000247005.5:p.Pro192Leu | |
| ENST00000623882.3:c.*844C>T (CERS1) | ENSP00000485308.1:n.*844C>T | |
| ENST00000623927.1:c.575C>T (CERS1) | ENSP00000485582.1:p.Pro192Leu | |
| NM_001492.5:c.575C>T (GDF1) | NP_001483.3:p.Pro192Leu | |
| NM_021267.4:c.*844C>T (CERS1) | NP_067090.1:n.*844C>T | |
| NM_001492.6:c.575C>T (GDF1) MANE Select | NP_001483.3:p.Pro192Leu | |
| NM_021267.5:c.*844C>T (CERS1) MANE Select | NP_067090.1:n.*844C>T | |
| NM_001387438.1:c.575C>T (GDF1) | NP_001374367.1:p.Pro192Leu | |
| NM_001387440.1:c.*1436C>T (CERS1) | NP_001374369.1:n.*1436C>T |