Linked Data
ClinVar Variation Id:
1247694
ClinVar RCV Id:
RCV001649655
dbSNP Id:
rs11122576
gnomAD v2:
1-230846679-T-C
gnomAD v3:
1-230710933-T-C
gnomAD v4:
1-230710933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710933T>C , CM000663.2:g.230710933T>C | GRCh38 |
| NC_000001.10:g.230846679T>C , CM000663.1:g.230846679T>C | GRCh37 |
| NC_000001.9:g.228913302T>C | NCBI36 |
| NG_008836.1:g.8658A>G | |
| NG_008836.2:g.8658A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.-30-80A>G MANE Select | ENSP00000355627.5:n.-30-80A>G | |
| ENST00000679684.1:c.-30-80A>G | ENSP00000505981.1:n.-30-80A>G | |
| ENST00000679738.1:c.-30-80A>G | ENSP00000505063.1:n.-30-80A>G | |
| ENST00000679802.1:c.-30-80A>G | ENSP00000505184.1:n.-30-80A>G | |
| ENST00000679854.1:n.482-80A>G | ||
| ENST00000679957.1:c.-30-80A>G | ENSP00000506646.1:n.-30-80A>G | |
| ENST00000680041.1:c.-110A>G | ENSP00000504866.1:n.-110A>G | |
| ENST00000680783.1:c.-30-80A>G | ENSP00000506329.1:n.-30-80A>G | |
| ENST00000681269.1:c.-30-80A>G | ENSP00000505985.1:n.-30-80A>G | |
| ENST00000681347.1:n.482-80A>G | ||
| ENST00000681514.1:c.-30-80A>G | ENSP00000505963.1:n.-30-80A>G | |
| ENST00000681772.1:c.-30-80A>G | ENSP00000505829.1:n.-30-80A>G | |
| ENST00000366667.4:c.-3-80A>G | ENSP00000355627.4:n.-3-80A>G | |
| NM_000029.3:c.-3-80A>G | NP_000020.1:n.-3-80A>G | |
| NM_000029.4:c.-3-80A>G | NP_000020.1:n.-3-80A>G | |
| NM_001382817.3:c.-30-80A>G | NP_001369746.2:n.-30-80A>G | |
| NM_001384479.1:c.-30-80A>G MANE Select | NP_001371408.1:n.-30-80A>G |