Linked Data
ClinVar Variation Id:
853194
ClinVar RCV Id:
RCV001057961
dbSNP Id:
rs1376036671
gnomAD v2:
1-94526219-C-A
gnomAD v4:
1-94060663-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060663C>A , CM000663.2:g.94060663C>A | GRCh38 |
| NC_000001.10:g.94526219C>A , CM000663.1:g.94526219C>A | GRCh37 |
| NC_000001.9:g.94298807C>A | NCBI36 |
| NG_009073.1:g.65487G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2034G>T MANE Select | ENSP00000359245.3:p.Lys678Asn | |
| ENST00000649773.1:c.2034G>T | ENSP00000496882.1:p.Lys678Asn | |
| ENST00000370225.3:c.2034G>T | ENSP00000359245.3:p.Lys678Asn | |
| ENST00000472033.1:n.154G>T | ||
| ENST00000536513.5:c.-65+2511G>T | ENSP00000439707.2:n.-65+2511G>T | |
| NM_000350.2:c.2034G>T | NP_000341.2:p.Lys678Asn | |
| NM_000350.3:c.2034G>T MANE Select | NP_000341.2:p.Lys678Asn |