Linked Data
ClinVar Variation Id:
788866
ClinVar RCV Id:
RCV000971373
dbSNP Id:
rs9331939
ExAC:
8:27457477 G / A
gnomAD v2:
8-27457477-G-A
gnomAD v3:
8-27599960-G-A
gnomAD v4:
8-27599960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27599960G>A , CM000670.2:g.27599960G>A | GRCh38 |
| NC_000008.10:g.27457477G>A , CM000670.1:g.27457477G>A | GRCh37 |
| NC_000008.9:g.27513394G>A | NCBI36 |
| NG_027845.1:g.19851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316403.15:c.984C>T MANE Select | ENSP00000315130.10:p.Asp328= | |
| ENST00000316403.14:c.984C>T | ENSP00000315130.10:p.Asp328= | |
| ENST00000405140.7:c.984C>T | ENSP00000385419.3:p.Asp328= | |
| ENST00000521770.1:c.56C>T | ||
| ENST00000522098.1:c.571C>T | ||
| ENST00000522299.5:n.1052C>T | ||
| ENST00000523500.5:c.984C>T | ENSP00000429620.1:p.Asp328= | |
| NM_001831.3:c.984C>T | NP_001822.3:p.Asp328= | |
| NR_038335.1:n.1305C>T | ||
| NR_045494.1:n.1164C>T | ||
| XM_006716284.1:c.1140C>T | XP_006716347.1:p.Asp380= | |
| XM_006716284.3:c.1140C>T | XP_006716347.1:p.Asp380= | |
| NM_001831.4:c.984C>T MANE Select | NP_001822.3:p.Asp328= | |
| NR_038335.2:n.1239C>T |