Linked Data
ClinVar Variation Id:
418233
ClinVar RCV Id:
RCV000481287
dbSNP Id:
rs1064793138
gnomAD v2:
19-18979573-C-T
gnomAD v3:
19-18868764-C-T
gnomAD v4:
19-18868764-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868764C>T , CM000681.2:g.18868764C>T | GRCh38 |
| NC_000019.9:g.18979573C>T , CM000681.1:g.18979573C>T | GRCh37 |
| NC_000019.8:g.18840573C>T | NCBI36 |
| NG_012070.1:g.32381G>A | |
| NG_033056.1:g.32381G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*1221G>A (CERS1) MANE Select | ENSP00000485308.1:n.*1221G>A | |
| ENST00000247005.8:c.952G>A (GDF1) MANE Select | ENSP00000247005.5:p.Ala318Thr | |
| ENST00000247005.7:c.952G>A (GDF1) | ENSP00000247005.5:p.Ala318Thr | |
| ENST00000623882.3:c.*1221G>A (CERS1) | ENSP00000485308.1:n.*1221G>A | |
| ENST00000623927.1:c.952G>A (CERS1) | ENSP00000485582.1:p.Ala318Thr | |
| NM_001492.5:c.952G>A (GDF1) | NP_001483.3:p.Ala318Thr | |
| NM_021267.4:c.*1221G>A (CERS1) | NP_067090.1:n.*1221G>A | |
| NM_001492.6:c.952G>A (GDF1) MANE Select | NP_001483.3:p.Ala318Thr | |
| NM_021267.5:c.*1221G>A (CERS1) MANE Select | NP_067090.1:n.*1221G>A | |
| NM_001387438.1:c.952G>A (GDF1) | NP_001374367.1:p.Ala318Thr | |
| NM_001387440.1:c.*1813G>A (CERS1) | NP_001374369.1:n.*1813G>A |