Linked Data
ClinVar Variation Id:
55981
ClinVar RCV Id:
RCV000049390
dbSNP Id:
rs386833463
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107776658C>G , CM000669.2:g.107776658C>G | GRCh38 |
| NC_000007.13:g.107417103C>G , CM000669.1:g.107417103C>G | GRCh37 |
| NC_000007.12:g.107204339C>G | NCBI36 |
| NG_008046.1:g.31576G>C , LRG_683:g.31576G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1563G>C MANE Select | ENSP00000345873.5:p.Lys521Asn | |
| ENST00000340010.9:c.1563G>C | ENSP00000345873.5:p.Lys521Asn | |
| ENST00000379083.7:c.*1354G>C | ENSP00000368375.3:n.*1354G>C | |
| ENST00000469651.1:n.95G>C | ||
| NM_000111.2:c.1563G>C , LRG_683t1:c.1563G>C | NP_000102.1:p.Lys521Asn | |
| XM_011515867.1:c.1563G>C | XP_011514169.1:p.Lys521Asn | |
| NM_000111.3:c.1563G>C MANE Select | NP_000102.1:p.Lys521Asn |