Linked Data
ClinVar Variation Id:
12431
ClinVar RCV Id:
RCV000013244
dbSNP Id:
rs267607129
PubMed:
PMID:19590045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151912G>C , CM000681.2:g.55151912G>C | GRCh38 |
| NC_000019.9:g.55663280G>C , CM000681.1:g.55663280G>C | GRCh37 |
| NC_000019.8:g.60355092G>C | NCBI36 |
| NG_007866.2:g.10821C>G , LRG_432:g.10821C>G | |
| NG_011829.2:g.2327C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.555C>G MANE Select | ENSP00000341838.5:p.Asn185Lys | |
| ENST00000665070.1:c.588C>G | ENSP00000499482.1:p.Asn196Lys | |
| ENST00000344887.9:c.555C>G | ENSP00000341838.5:p.Asn185Lys | |
| ENST00000585806.5:n.554C>G | ||
| ENST00000588882.1:c.480C>G | ENSP00000466729.1:p.Asn160Lys | |
| ENST00000589864.1:n.383C>G | ||
| NM_000363.4:c.555C>G , LRG_432t1:c.555C>G | NP_000354.4:p.Asn185Lys | |
| NM_000363.5:c.555C>G MANE Select | NP_000354.4:p.Asn185Lys |