Linked Data
dbSNP Id:
rs3217901
gnomAD v2:
12-4405389-A-G
gnomAD v3:
12-4296223-A-G
gnomAD v4:
12-4296223-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4296223A>G , CM000674.2:g.4296223A>G | GRCh38 |
| NC_000012.11:g.4405389A>G , CM000674.1:g.4405389A>G | GRCh37 |
| NC_000012.10:g.4275650A>G | NCBI36 |
| NG_034254.1:g.27488A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261254.8:c.721-3637A>G MANE Select | ENSP00000261254.3:n.721-3637A>G | |
| ENST00000536537.2:n.851-1534A>G | ||
| ENST00000648100.1:c.720+7233A>G | ENSP00000497536.1:n.720+7233A>G | |
| ENST00000674624.1:c.720+7233A>G | ENSP00000501898.1:n.720+7233A>G | |
| ENST00000675468.1:n.645-3637A>G | ||
| ENST00000675880.1:c.763-3637A>G | ENSP00000502508.1:n.763-3637A>G | |
| ENST00000676279.1:c.721-3637A>G | ENSP00000502597.1:n.721-3637A>G | |
| ENST00000676411.1:c.721-3637A>G | ENSP00000502654.1:n.721-3637A>G | |
| ENST00000261254.7:c.721-3637A>G | ENSP00000261254.3:n.721-3637A>G | |
| ENST00000536537.1:c.318-1534A>G | ||
| NM_001759.3:c.721-3637A>G | NP_001750.1:n.721-3637A>G | |
| NM_001759.4:c.721-3637A>G MANE Select | NP_001750.1:n.721-3637A>G |