Linked Data
dbSNP Id:
rs1002247010
gnomAD v2:
2-85767768-A-G
gnomAD v3:
2-85540645-A-G
gnomAD v4:
2-85540645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85540645A>G , CM000664.2:g.85540645A>G | GRCh38 |
| NC_000002.11:g.85767768A>G , CM000664.1:g.85767768A>G | GRCh37 |
| NC_000002.10:g.85621279A>G | NCBI36 |
| NG_029183.1:g.6668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306434.8:c.92-438A>G MANE Select | ENSP00000303147.3:n.92-438A>G | |
| ENST00000306434.7:c.92-438A>G | ENSP00000303147.3:n.92-438A>G | |
| ENST00000409017.1:c.-98-438A>G | ENSP00000386353.1:n.-98-438A>G | |
| ENST00000465151.5:n.212-438A>G | ||
| ENST00000469221.5:n.212-438A>G | ||
| ENST00000481412.5:n.70-438A>G | ||
| NM_005911.5:c.92-438A>G | NP_005902.1:n.92-438A>G | |
| NM_005911.6:c.92-438A>G MANE Select | NP_005902.1:n.92-438A>G |