Linked Data
ClinVar Variation Id:
1706706
ClinVar RCV Id:
RCV002285622
dbSNP Id:
rs17127057
gnomAD v2:
10-89486971-A-G
gnomAD v3:
10-87727214-A-G
gnomAD v4:
10-87727214-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727214A>G , CM000672.2:g.87727214A>G | GRCh38 |
| NC_000010.10:g.89486971A>G , CM000672.1:g.89486971A>G | GRCh37 |
| NC_000010.9:g.89476951A>G | NCBI36 |
| NG_012150.1:g.72496A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.881-70A>G MANE Select | ENSP00000406157.1:n.881-70A>G | |
| ENST00000361175.8:c.866-70A>G | ENSP00000354436.4:n.866-70A>G | |
| ENST00000456849.1:c.881-70A>G | ENSP00000406157.1:n.881-70A>G | |
| NM_001015880.1:c.881-70A>G | NP_001015880.1:n.881-70A>G | |
| NM_004670.3:c.866-70A>G | NP_004661.2:n.866-70A>G | |
| NM_001015880.2:c.881-70A>G MANE Select | NP_001015880.1:n.881-70A>G | |
| NM_004670.4:c.866-70A>G | NP_004661.2:n.866-70A>G |