Linked Data
ClinVar Variation Id:
2800940
ClinVar RCV Id:
RCV003647492
dbSNP Id:
rs201944089
gnomAD v3:
7-21787442-G-T
gnomAD v4:
7-21787442-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21787442G>T , CM000669.2:g.21787442G>T | GRCh38 |
| NC_000007.13:g.21827060G>T , CM000669.1:g.21827060G>T | GRCh37 |
| NC_000007.12:g.21793585G>T | NCBI36 |
| NG_012886.2:g.249228G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.9783G>T MANE Select | ENSP00000475939.1:p.Glu3261Asp | |
| ENST00000328843.10:c.9804G>T | ENSP00000330671.7:p.Glu3268Asp | |
| ENST00000409508.7:c.9783G>T | ENSP00000475939.1:p.Glu3261Asp | |
| ENST00000620169.4:c.9804G>T | ENSP00000481693.1:p.Glu3268Asp | |
| NM_001277115.1:c.9783G>T | NP_001264044.1:p.Glu3261Asp | |
| NM_001277115.2:c.9783G>T MANE Select | NP_001264044.1:p.Glu3261Asp |