Linked Data
ClinVar Variation Id:
13446
dbSNP Id:
rs121918085
ExAC:
18:29175144 A / T
gnomAD v2:
18-29175144-A-T
gnomAD v3:
18-31595181-A-T
gnomAD v4:
18-31595181-A-T
PubMed:
PMID:8038017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595181A>T , CM000680.2:g.31595181A>T | GRCh38 |
| NC_000018.9:g.29175144A>T , CM000680.1:g.29175144A>T | GRCh37 |
| NC_000018.8:g.27429142A>T | NCBI36 |
| NG_009490.1:g.8415A>T , LRG_416:g.8415A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.262A>T MANE Select | ENSP00000237014.4:p.Ile88Leu | |
| ENST00000610404.5:c.166A>T | ENSP00000477599.2:p.Ile56Leu | |
| ENST00000649620.1:c.262A>T | ENSP00000497927.1:p.Ile88Leu | |
| ENST00000237014.7:c.262A>T | ENSP00000237014.3:p.Ile88Leu | |
| ENST00000541025.2:n.288A>T | ||
| ENST00000610404.4:c.262A>T | ENSP00000477599.1:p.Ile88Leu | |
| ENST00000613781.1:c.262A>T | ENSP00000479174.1:p.Ile88Leu | |
| NM_000371.3:c.262A>T , LRG_416t1:c.262A>T | NP_000362.1:p.Ile88Leu | |
| NM_000371.4:c.262A>T MANE Select | NP_000362.1:p.Ile88Leu |