Linked Data
ClinVar Variation Id:
2894841
ClinVar RCV Id:
RCV003642601
dbSNP Id:
rs372277185
ExAC:
8:145106272 C / T
gnomAD v2:
8-145106272-C-T
gnomAD v3:
8-144051371-C-T
gnomAD v4:
8-144051371-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144051371C>T , CM000670.2:g.144051371C>T | GRCh38 |
| NC_000008.10:g.145106272C>T , CM000670.1:g.145106272C>T | GRCh37 |
| NC_000008.9:g.145178260C>T | NCBI36 |
| NG_032671.1:g.14311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686861.1:n.594C>T (SMPD5) | ||
| ENST00000687871.1:n.842C>T (SMPD5) | ||
| ENST00000689734.1:n.842C>T (SMPD5) | ||
| ENST00000691496.1:n.679C>T (SMPD5) | ||
| ENST00000693651.1:n.843C>T (SMPD5) | ||
| ENST00000528912.1:n.1239C>T (SMPD5) | ||
| ENST00000618853.5:c.3822G>A (OPLAH) MANE Select | ENSP00000480476.1:p.Glu1274= | |
| ENST00000618853.4:c.3822G>A (OPLAH) | ENSP00000480476.1:p.Glu1274= | |
| NM_017570.4:c.3822G>A (OPLAH) | NP_060040.1:p.Glu1274= | |
| XM_011516960.1:c.4110G>A (OPLAH) | XP_011515262.1:p.Glu1370= | |
| NM_017570.5:c.3822G>A (OPLAH) MANE Select | NP_060040.1:p.Glu1274= |