Linked Data
ClinVar Variation Id:
161505
ClinVar RCV Id:
RCV000149039
dbSNP Id:
rs193920849
COSMIC:
COSM1179716
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145111062T>G , CM000666.2:g.145111062T>G | GRCh38 |
| NC_000004.11:g.146032214T>G , CM000666.1:g.146032214T>G | GRCh37 |
| NC_000004.10:g.146251664T>G | NCBI36 |
| NG_047075.1:g.18059T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296577.9:c.708T>G (ABCE1) MANE Select | ENSP00000296577.4:p.Asp236Glu | |
| ENST00000296577.8:c.708T>G (ABCE1) | ENSP00000296577.4:p.Asp236Glu | |
| ENST00000455611.6:n.2274A>C (OTUD4) | ||
| ENST00000502803.5:n.239+6547T>G (ABCE1) | ||
| ENST00000504292.1:c.412+618T>G (ABCE1) | ENSP00000423415.1:n.412+618T>G | |
| ENST00000506506.5:n.107-11959T>G (ABCE1) | ||
| ENST00000507193.5:c.708T>G (ABCE1) | ENSP00000422068.1:p.Asp236Glu | |
| NM_001040876.1:c.708T>G (ABCE1) | NP_001035809.1:p.Asp236Glu | |
| NM_002940.2:c.708T>G (ABCE1) | NP_002931.2:p.Asp236Glu | |
| NM_002940.3:c.708T>G (ABCE1) MANE Select | NP_002931.2:p.Asp236Glu | |
| NM_001040876.2:c.708T>G (ABCE1) | NP_001035809.1:p.Asp236Glu |