Linked Data
dbSNP Id:
rs1232853512
gnomAD v2:
19-18980209-T-C
gnomAD v3:
19-18869400-T-C
gnomAD v4:
19-18869400-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18869400T>C , CM000681.2:g.18869400T>C | GRCh38 |
| NC_000019.9:g.18980209T>C , CM000681.1:g.18980209T>C | GRCh37 |
| NC_000019.8:g.18841209T>C | NCBI36 |
| NG_012070.1:g.31745A>G | |
| NG_033056.1:g.31745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.*595-10A>G (CERS1) MANE Select | ENSP00000485308.1:n.*595-10A>G | |
| ENST00000247005.8:c.326-10A>G (GDF1) MANE Select | ENSP00000247005.5:n.326-10A>G | |
| ENST00000247005.7:c.326-10A>G (GDF1) | ENSP00000247005.5:n.326-10A>G | |
| ENST00000623882.3:c.*595-10A>G (CERS1) | ENSP00000485308.1:n.*595-10A>G | |
| ENST00000623927.1:c.326-10A>G (CERS1) | ENSP00000485582.1:n.326-10A>G | |
| NM_001492.5:c.326-10A>G (GDF1) | NP_001483.3:n.326-10A>G | |
| NM_021267.4:c.*595-10A>G (CERS1) | NP_067090.1:n.*595-10A>G | |
| NM_001492.6:c.326-10A>G (GDF1) MANE Select | NP_001483.3:n.326-10A>G | |
| NM_021267.5:c.*595-10A>G (CERS1) MANE Select | NP_067090.1:n.*595-10A>G | |
| NM_001387438.1:c.326-10A>G (GDF1) | NP_001374367.1:n.326-10A>G | |
| NM_001387440.1:c.*1177A>G (CERS1) | NP_001374369.1:n.*1177A>G |