Linked Data
ClinVar Variation Id:
927565
dbSNP Id:
rs750350912
ExAC:
19:55666163 C / G
gnomAD v2:
19-55666163-C-G
gnomAD v4:
19-55154795-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154795C>G , CM000681.2:g.55154795C>G | GRCh38 |
| NC_000019.9:g.55666163C>G , CM000681.1:g.55666163C>G | GRCh37 |
| NC_000019.8:g.60357975C>G | NCBI36 |
| NG_007866.2:g.7938G>C , LRG_432:g.7938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.318G>C MANE Select | ENSP00000341838.5:p.Lys106Asn | |
| ENST00000665070.1:c.318G>C | ENSP00000499482.1:p.Lys106Asn | |
| ENST00000344887.9:c.318G>C | ENSP00000341838.5:p.Lys106Asn | |
| ENST00000585806.5:n.317G>C | ||
| ENST00000586669.5:n.326G>C | ||
| ENST00000587176.5:n.502G>C | ||
| ENST00000587871.1:c.937G>C | ||
| ENST00000588882.1:c.243G>C | ENSP00000466729.1:p.Lys81Asn | |
| ENST00000590463.1:n.490G>C | ||
| NM_000363.4:c.318G>C , LRG_432t1:c.318G>C | NP_000354.4:p.Lys106Asn | |
| NM_000363.5:c.318G>C MANE Select | NP_000354.4:p.Lys106Asn |