Linked Data
ClinVar Variation Id:
776303
ClinVar RCV Id:
RCV000956581
dbSNP Id:
rs9331938
ExAC:
8:27457479 C / T
gnomAD v2:
8-27457479-C-T
gnomAD v3:
8-27599962-C-T
gnomAD v4:
8-27599962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27599962C>T , CM000670.2:g.27599962C>T | GRCh38 |
| NC_000008.10:g.27457479C>T , CM000670.1:g.27457479C>T | GRCh37 |
| NC_000008.9:g.27513396C>T | NCBI36 |
| NG_027845.1:g.19849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316403.15:c.982G>A MANE Select | ENSP00000315130.10:p.Asp328Asn | |
| ENST00000316403.14:c.982G>A | ENSP00000315130.10:p.Asp328Asn | |
| ENST00000405140.7:c.982G>A | ENSP00000385419.3:p.Asp328Asn | |
| ENST00000521770.1:c.54G>A | ||
| ENST00000522098.1:c.569G>A | ||
| ENST00000522299.5:n.1050G>A | ||
| ENST00000523500.5:c.982G>A | ENSP00000429620.1:p.Asp328Asn | |
| NM_001831.3:c.982G>A | NP_001822.3:p.Asp328Asn | |
| NR_038335.1:n.1303G>A | ||
| NR_045494.1:n.1162G>A | ||
| XM_006716284.1:c.1138G>A | XP_006716347.1:p.Asp380Asn | |
| XM_006716284.3:c.1138G>A | XP_006716347.1:p.Asp380Asn | |
| NM_001831.4:c.982G>A MANE Select | NP_001822.3:p.Asp328Asn | |
| NR_038335.2:n.1237G>A |