Linked Data
ClinVar Variation Id:
454684
ClinVar RCV Id:
RCV000527450
dbSNP Id:
rs1164659091
gnomAD v2:
7-21721203-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21681585G>T , CM000669.2:g.21681585G>T | GRCh38 |
| NC_000007.13:g.21721203G>T , CM000669.1:g.21721203G>T | GRCh37 |
| NC_000007.12:g.21687728G>T | NCBI36 |
| NG_012886.2:g.143371G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.5368G>T MANE Select | ENSP00000475939.1:p.Glu1790Ter | |
| ENST00000328843.10:c.5383G>T | ENSP00000330671.7:p.Glu1795Ter | |
| ENST00000409508.7:c.5368G>T | ENSP00000475939.1:p.Glu1790Ter | |
| ENST00000620169.4:c.5383G>T | ENSP00000481693.1:p.Glu1795Ter | |
| NM_001277115.1:c.5368G>T | NP_001264044.1:p.Glu1790Ter | |
| NM_001277115.2:c.5368G>T MANE Select | NP_001264044.1:p.Glu1790Ter |