Linked Data
ClinVar Variation Id:
1488768
ClinVar RCV Id:
RCV001977083
dbSNP Id:
rs1478246707
gnomAD v4:
1-1232667-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232667A>G , CM000663.2:g.1232667A>G | GRCh38 |
| NC_000001.10:g.1168047A>G , CM000663.1:g.1168047A>G | GRCh37 |
| NC_000001.9:g.1157910A>G | NCBI36 |
| NG_030007.1:g.4401T>C | |
| NG_033265.1:g.5419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.389A>G MANE Select | ENSP00000368496.2:p.Glu130Gly | |
| ENST00000379198.3:c.389A>G | ENSP00000368496.2:p.Glu130Gly | |
| NM_080605.3:c.389A>G | NP_542172.2:p.Glu130Gly | |
| NM_080605.4:c.389A>G MANE Select | NP_542172.2:p.Glu130Gly |