Linked Data
ClinVar Variation Id:
1573637
ClinVar RCV Id:
RCV002208011
dbSNP Id:
rs762494567
ExAC:
2:29295844 G / A
gnomAD v2:
2-29295844-G-A
gnomAD v3:
2-29072978-G-A
gnomAD v4:
2-29072978-G-A
COSMIC:
COSM1283807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072978G>A , CM000664.2:g.29072978G>A | GRCh38 |
| NC_000002.11:g.29295844G>A , CM000664.1:g.29295844G>A | GRCh37 |
| NC_000002.10:g.29149348G>A | NCBI36 |
| NG_021427.1:g.6284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1284C>T MANE Select | ENSP00000332809.4:p.Asp428= | |
| ENST00000331664.5:c.1284C>T | ENSP00000332809.4:p.Asp428= | |
| NM_001029883.2:c.1284C>T | NP_001025054.1:p.Asp428= | |
| XM_011532826.1:c.1284C>T | XP_011531128.1:p.Asp428= | |
| XR_939901.1:n.185+3811G>A | ||
| XR_939902.1:n.173+3823G>A | ||
| NM_001029883.3:c.1284C>T MANE Select | NP_001025054.1:p.Asp428= |