Linked Data
ClinVar Variation Id:
539307
ClinVar RCV Id:
RCV002531935
dbSNP Id:
rs578219025
ExAC:
19:18980207 G / A
gnomAD v2:
19-18980207-G-A
gnomAD v3:
19-18869398-G-A
gnomAD v4:
19-18869398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18869398G>A , CM000681.2:g.18869398G>A | GRCh38 |
| NC_000019.9:g.18980207G>A , CM000681.1:g.18980207G>A | GRCh37 |
| NC_000019.8:g.18841207G>A | NCBI36 |
| NG_012070.1:g.31747C>T | |
| NG_033056.1:g.31747C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*595-8C>T (CERS1) MANE Select | ENSP00000485308.1:n.*595-8C>T | |
| ENST00000247005.8:c.326-8C>T (GDF1) MANE Select | ENSP00000247005.5:n.326-8C>T | |
| ENST00000247005.7:c.326-8C>T (GDF1) | ENSP00000247005.5:n.326-8C>T | |
| ENST00000623882.3:c.*595-8C>T (CERS1) | ENSP00000485308.1:n.*595-8C>T | |
| ENST00000623927.1:c.326-8C>T (CERS1) | ENSP00000485582.1:n.326-8C>T | |
| NM_001492.5:c.326-8C>T (GDF1) | NP_001483.3:n.326-8C>T | |
| NM_021267.4:c.*595-8C>T (CERS1) | NP_067090.1:n.*595-8C>T | |
| NM_001492.6:c.326-8C>T (GDF1) MANE Select | NP_001483.3:n.326-8C>T | |
| NM_021267.5:c.*595-8C>T (CERS1) MANE Select | NP_067090.1:n.*595-8C>T | |
| NM_001387438.1:c.326-8C>T (GDF1) | NP_001374367.1:n.326-8C>T | |
| NM_001387440.1:c.*1179C>T (CERS1) | NP_001374369.1:n.*1179C>T |