Linked Data
ClinVar Variation Id:
13443
ClinVar RCV Id:
RCV000014385
dbSNP Id:
rs267607160
PubMed:
PMID:1436517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595189A>C , CM000680.2:g.31595189A>C | GRCh38 |
| NC_000018.9:g.29175152A>C , CM000680.1:g.29175152A>C | GRCh37 |
| NC_000018.8:g.27429150A>C | NCBI36 |
| NG_009490.1:g.8423A>C , LRG_416:g.8423A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.270A>C MANE Select | ENSP00000237014.4:p.Lys90Asn | |
| ENST00000610404.5:c.174A>C | ENSP00000477599.2:p.Lys58Asn | |
| ENST00000649620.1:c.270A>C | ENSP00000497927.1:p.Lys90Asn | |
| ENST00000237014.7:c.270A>C | ENSP00000237014.3:p.Lys90Asn | |
| ENST00000541025.2:n.296A>C | ||
| ENST00000610404.4:c.270A>C | ENSP00000477599.1:p.Lys90Asn | |
| ENST00000613781.1:c.270A>C | ENSP00000479174.1:p.Lys90Asn | |
| NM_000371.3:c.270A>C , LRG_416t1:c.270A>C | NP_000362.1:p.Lys90Asn | |
| NM_000371.4:c.270A>C MANE Select | NP_000362.1:p.Lys90Asn |