Linked Data
ClinVar Variation Id:
495789
ClinVar RCV Id:
RCV000590560
dbSNP Id:
rs762949770
gnomAD v4:
12-102894861-C-A
ERepo:
CA16020752/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894861C>A , CM000674.2:g.102894861C>A | GRCh38 |
| NC_000012.11:g.103288639C>A , CM000674.1:g.103288639C>A | GRCh37 |
| NC_000012.10:g.101812769C>A | NCBI36 |
| NG_008690.1:g.27742G>T | |
| NG_008690.2:g.68550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.226G>T MANE Select | ENSP00000448059.1:p.Glu76Ter | |
| ENST00000307000.7:c.211G>T | ENSP00000303500.2:p.Glu71Ter | |
| ENST00000546844.1:c.226G>T | ENSP00000446658.1:p.Glu76Ter | |
| ENST00000548677.2:n.313G>T | ||
| ENST00000548928.1:n.148G>T | ||
| ENST00000549111.5:n.322G>T | ||
| ENST00000550978.6:c.210G>T | ||
| ENST00000551337.5:c.226G>T | ENSP00000447620.1:p.Glu76Ter | |
| ENST00000551988.5:n.315G>T | ||
| ENST00000553106.5:c.226G>T | ENSP00000448059.1:p.Glu76Ter | |
| NM_000277.1:c.226G>T | NP_000268.1:p.Glu76Ter | |
| XM_011538422.1:c.226G>T | XP_011536724.1:p.Glu76Ter | |
| NM_000277.2:c.226G>T | NP_000268.1:p.Glu76Ter | |
| NM_001354304.1:c.226G>T | NP_001341233.1:p.Glu76Ter | |
| XM_017019370.2:c.226G>T | XP_016874859.1:p.Glu76Ter | |
| NM_000277.3:c.226G>T MANE Select | NP_000268.1:p.Glu76Ter | |
| NM_001354304.2:c.226G>T | NP_001341233.1:p.Glu76Ter |