Linked Data
ClinVar Variation Id:
1483674
ClinVar RCV Id:
RCV001998893
dbSNP Id:
rs766371877
ExAC:
2:21232366 T / A
gnomAD v2:
2-21232366-T-A
gnomAD v3:
2-21009494-T-A
gnomAD v4:
2-21009494-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009494T>A , CM000664.2:g.21009494T>A | GRCh38 |
| NC_000002.11:g.21232366T>A , CM000664.1:g.21232366T>A | GRCh37 |
| NC_000002.10:g.21085871T>A | NCBI36 |
| NG_011793.1:g.39580A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7374A>T MANE Select | ENSP00000233242.1:p.Glu2458Asp | |
| ENST00000616098.4:c.7374A>T | ENSP00000477990.1:p.Glu2458Asp | |
| NM_000384.2:c.7374A>T | NP_000375.2:p.Glu2458Asp | |
| XM_011532809.1:c.5869+1239A>T | XP_011531111.1:n.5869+1239A>T | |
| NM_000384.3:c.7374A>T MANE Select | NP_000375.3:p.Glu2458Asp |