Linked Data
ClinVar Variation Id:
464829
dbSNP Id:
rs150904363
ExAC:
20:3194674 A / G
gnomAD v2:
20-3194674-A-G
gnomAD v3:
20-3214028-A-G
gnomAD v4:
20-3214028-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3214028A>G , CM000682.2:g.3214028A>G | GRCh38 |
| NC_000020.10:g.3194674A>G , CM000682.1:g.3194674A>G | GRCh37 |
| NC_000020.9:g.3142674A>G | NCBI36 |
| NG_012093.1:g.9619A>G | |
| NG_012093.2:g.10162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380113.8:c.233A>G MANE Select | ENSP00000369456.3:p.Asn78Ser | |
| ENST00000380113.7:c.233A>G | ENSP00000369456.3:p.Asn78Ser | |
| ENST00000399838.3:c.110A>G | ENSP00000382732.3:p.Asn37Ser | |
| ENST00000455664.6:c.182A>G | ENSP00000413282.1:p.Asn61Ser | |
| ENST00000460550.5:n.207A>G | ||
| ENST00000460676.5:n.346A>G | ||
| ENST00000483354.5:n.268A>G | ||
| ENST00000490838.6:n.217A>G | ||
| ENST00000609835.5:n.287A>G | ||
| NM_001267623.1:c.110A>G | NP_001254552.1:p.Asn37Ser | |
| NM_033453.3:c.233A>G | NP_258412.1:p.Asn78Ser | |
| NM_181493.2:c.182A>G | NP_852470.1:p.Asn61Ser | |
| NR_052000.1:n.268A>G | ||
| NR_052001.1:n.218A>G | ||
| NR_052002.1:n.360A>G | ||
| XM_006723564.2:c.233A>G | XP_006723627.1:p.Asn78Ser | |
| XM_006723565.2:c.110A>G | XP_006723628.1:p.Asn37Ser | |
| XM_011529234.1:c.233A>G | XP_011527536.1:p.Asn78Ser | |
| XM_011529235.1:c.233A>G | XP_011527537.1:p.Asn78Ser | |
| NM_001324236.1:c.-105A>G | NP_001311165.1:n.-105A>G | |
| NM_001324237.1:c.-105A>G | NP_001311166.1:n.-105A>G | |
| NM_001324238.1:c.-105A>G | NP_001311167.1:n.-105A>G | |
| NM_001324240.1:c.233A>G | NP_001311169.1:p.Asn78Ser | |
| NM_001351739.1:c.-105A>G | NP_001338668.1:n.-105A>G | |
| NM_181493.3:c.182A>G | NP_852470.1:p.Asn61Ser | |
| XM_006723564.3:c.233A>G | XP_006723627.1:p.Asn78Ser | |
| XM_006723565.3:c.110A>G | XP_006723628.1:p.Asn37Ser | |
| XM_011529234.2:c.233A>G | XP_011527536.1:p.Asn78Ser | |
| XM_024451880.1:c.-105A>G | XP_024307648.1:n.-105A>G | |
| NM_033453.4:c.233A>G MANE Select | NP_258412.1:p.Asn78Ser | |
| NM_001267623.2:c.110A>G | NP_001254552.1:p.Asn37Ser | |
| NM_001324236.2:c.-105A>G | NP_001311165.1:n.-105A>G | |
| NM_001324237.2:c.-105A>G | NP_001311166.1:n.-105A>G | |
| NM_001324238.2:c.-105A>G | NP_001311167.1:n.-105A>G | |
| NM_001324240.2:c.233A>G | NP_001311169.1:p.Asn78Ser | |
| NM_001351739.2:c.-105A>G | NP_001338668.1:n.-105A>G | |
| NM_181493.4:c.182A>G | NP_852470.1:p.Asn61Ser | |
| NR_052000.2:n.460A>G | ||
| NR_052002.2:n.222A>G |