Linked Data
ClinVar Variation Id:
297841
dbSNP Id:
rs886046470
gnomAD v2:
1-63833345-C-G
gnomAD v3:
1-63367674-C-G
gnomAD v4:
1-63367674-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63367674C>G , CM000663.2:g.63367674C>G | GRCh38 |
| NC_000001.10:g.63833345C>G , CM000663.1:g.63833345C>G | GRCh37 |
| NC_000001.9:g.63605933C>G | NCBI36 |
| NG_008925.2:g.5085C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.-221C>G MANE Select | ENSP00000263440.5:n.-221C>G | |
| ENST00000603108.6:c.-221C>G | ENSP00000473934.2:n.-221C>G | |
| ENST00000647818.1:c.-221C>G | ENSP00000497667.1:n.-221C>G | |
| ENST00000648964.1:c.-221C>G | ENSP00000497828.1:n.-221C>G | |
| ENST00000649570.1:c.-221C>G | ENSP00000497742.1:n.-221C>G | |
| ENST00000650469.1:n.48C>G | ||
| ENST00000650494.1:c.-221C>G | ENSP00000497170.1:n.-221C>G | |
| ENST00000371108.8:c.-221C>G | ENSP00000360149.4:n.-221C>G | |
| ENST00000487136.2:c.-221C>G | ENSP00000473328.1:n.-221C>G | |
| NM_013339.3:c.-221C>G | NP_037471.2:n.-221C>G | |
| NM_013339.4:c.-221C>G MANE Select | NP_037471.2:n.-221C>G |