Linked Data
ClinVar Variation Id:
2145706
ClinVar RCV Id:
RCV003074188
dbSNP Id:
rs1477565773
gnomAD v3:
8-86671089-G-C
gnomAD v4:
8-86671089-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671089G>C , CM000670.2:g.86671089G>C | GRCh38 |
| NC_000008.10:g.87683317G>C , CM000670.1:g.87683317G>C | GRCh37 |
| NC_000008.9:g.87752433G>C | NCBI36 |
| NG_016980.1:g.77587C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.348C>G MANE Select | ENSP00000316605.5:p.Asn116Lys | |
| ENST00000680314.1:n.109C>G | ||
| ENST00000681746.1:c.348C>G | ENSP00000505959.1:p.Asn116Lys | |
| ENST00000320005.5:c.348C>G | ENSP00000316605.5:p.Asn116Lys | |
| NM_019098.4:c.348C>G | NP_061971.3:p.Asn116Lys | |
| XM_011517138.1:c.-67C>G | XP_011515440.1:n.-67C>G | |
| XM_011517138.2:c.-67C>G | XP_011515440.1:n.-67C>G | |
| NM_019098.5:c.348C>G MANE Select | NP_061971.3:p.Asn116Lys |