Linked Data
ClinVar Variation Id:
376005
ClinVar RCV Id:
RCV000420231
dbSNP Id:
rs377023736
ExAC:
2:198267359 C / G
gnomAD v2:
2-198267359-C-G
gnomAD v3:
2-197402635-C-G
gnomAD v4:
2-197402635-C-G
COSMIC:
COSM132937
PubMed:
PMID:23395771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402635C>G , CM000664.2:g.197402635C>G | GRCh38 |
| NC_000002.11:g.198267359C>G , CM000664.1:g.198267359C>G | GRCh37 |
| NC_000002.10:g.197975604C>G | NCBI36 |
| NG_032903.2:g.37413G>C , LRG_624:g.37413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.1998G>C MANE Select | ENSP00000335321.6:p.Lys666Asn | |
| ENST00000470268.2:n.3882G>C | ||
| ENST00000652026.1:c.*3065G>C | ENSP00000498652.1:n.*3065G>C | |
| ENST00000652738.1:c.*2257G>C | ENSP00000499119.1:n.*2257G>C | |
| ENST00000335508.10:c.1998G>C | ENSP00000335321.5:p.Lys666Asn | |
| NM_012433.2:c.1998G>C | NP_036565.2:p.Lys666Asn | |
| NM_012433.3:c.1998G>C , LRG_624t2:c.1998G>C | NP_036565.2:p.Lys666Asn | |
| XM_011510867.1:c.1560G>C | XP_011509169.1:p.Lys520Asn | |
| XM_011510868.1:c.1560G>C | XP_011509170.1:p.Lys520Asn | |
| XR_241300.2:n.2090G>C | ||
| XR_001738680.2:n.2043G>C | ||
| NM_012433.4:c.1998G>C MANE Select | NP_036565.2:p.Lys666Asn |