Linked Data
ClinVar Variation Id:
1310685
ClinVar RCV Id:
RCV001767799
dbSNP Id:
rs1280251666
gnomAD v2:
20-32026816-C-G
gnomAD v3:
20-33439010-C-G
gnomAD v4:
20-33439010-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33439010C>G , CM000682.2:g.33439010C>G | GRCh38 |
| NC_000020.10:g.32026816C>G , CM000682.1:g.32026816C>G | GRCh37 |
| NC_000020.9:g.31490477C>G | NCBI36 |
| NG_011622.1:g.9883G>C , LRG_332:g.9883G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.327G>C MANE Select | ENSP00000217381.2:p.Lys109Asn | |
| ENST00000217381.2:c.327G>C | ENSP00000217381.2:p.Lys109Asn | |
| NM_003098.2:c.327G>C , LRG_332t1:c.327G>C | NP_003089.1:p.Lys109Asn | |
| XM_005260517.1:c.327G>C | XP_005260574.1:p.Lys109Asn | |
| XM_011529007.1:c.327G>C | XP_011527309.1:p.Lys109Asn | |
| XM_011529008.1:c.327G>C | XP_011527310.1:p.Lys109Asn | |
| XR_936612.1:n.560G>C | ||
| XM_024451971.1:c.-1G>C | XP_024307739.1:n.-1G>C | |
| NM_003098.3:c.327G>C MANE Select | NP_003089.1:p.Lys109Asn |