Linked Data
ClinVar Variation Id:
2938783
ClinVar RCV Id:
RCV003799557
dbSNP Id:
rs1012120393
gnomAD v2:
12-57908533-G-A
gnomAD v3:
12-57514750-G-A
gnomAD v4:
12-57514750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57514750G>A , CM000674.2:g.57514750G>A | GRCh38 |
| NC_000012.11:g.57908533G>A , CM000674.1:g.57908533G>A | GRCh37 |
| NC_000012.10:g.56194800G>A | NCBI36 |
| NG_027674.1:g.10768C>T | |
| NG_034077.1:g.31798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1998G>A MANE Select | ENSP00000262027.5:p.Gly666= | |
| ENST00000262027.9:c.1998G>A | ENSP00000262027.5:p.Gly666= | |
| ENST00000537638.6:c.*290G>A | ENSP00000446168.2:n.*290G>A | |
| ENST00000545888.6:c.*1499G>A | ENSP00000439307.2:n.*1499G>A | |
| ENST00000548202.5:n.505G>A | ||
| ENST00000548944.1:c.134-1745G>A | ENSP00000449071.1:n.134-1745G>A | |
| ENST00000549048.1:n.663G>A | ||
| ENST00000552914.5:c.66G>A | ENSP00000449787.1:p.Gly22= | |
| ENST00000628866.2:c.*1499G>A | ENSP00000486738.1:n.*1499G>A | |
| NM_004990.3:c.1998G>A | NP_004981.2:p.Gly666= | |
| XM_006719398.2:c.1296G>A | XP_006719461.1:p.Gly432= | |
| XM_006719398.4:c.1296G>A | XP_006719461.1:p.Gly432= | |
| XR_001748704.2:n.1954G>A | ||
| XR_002957327.1:n.1945G>A | ||
| NM_004990.4:c.1998G>A MANE Select | NP_004981.2:p.Gly666= |