Linked Data
dbSNP Id:
rs104895045
ExAC:
5:131924341 C / G
gnomAD v2:
5-131924341-C-G
gnomAD v3:
5-132588649-C-G
gnomAD v4:
5-132588649-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588649C>G , CM000667.2:g.132588649C>G | GRCh38 |
| NC_000005.9:g.131924341C>G , CM000667.1:g.131924341C>G | GRCh37 |
| NC_000005.8:g.131952240C>G | NCBI36 |
| NG_021151.1:g.36726C>G | |
| NG_021151.2:g.36673C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1052-38C>G MANE Select | ENSP00000368100.4:n.1052-38C>G | |
| ENST00000638452.2:c.755-38C>G | ENSP00000492349.2:n.755-38C>G | |
| ENST00000638504.1:n.738-38C>G | ||
| ENST00000638568.2:c.755-38C>G | ENSP00000491158.2:n.755-38C>G | |
| ENST00000639899.1:n.1571-38C>G | ||
| ENST00000640655.2:c.755-38C>G | ENSP00000491596.2:n.755-38C>G | |
| ENST00000651160.1:c.1052-38C>G | ENSP00000498829.1:n.1052-38C>G | |
| ENST00000651541.1:c.755-38C>G | ENSP00000498795.1:n.755-38C>G | |
| ENST00000651658.1:n.1479-38C>G | ||
| ENST00000651723.1:c.*1135-38C>G | ENSP00000498237.1:n.*1135-38C>G | |
| ENST00000652016.1:c.1052-38C>G | ENSP00000498267.1:n.1052-38C>G | |
| ENST00000652485.1:c.1052-38C>G | ENSP00000498973.1:n.1052-38C>G | |
| ENST00000378823.7:c.1052-38C>G | ENSP00000368100.4:n.1052-38C>G | |
| ENST00000423956.5:c.1052-38C>G | ENSP00000390971.1:n.1052-38C>G | |
| ENST00000453394.5:c.1052-38C>G | ENSP00000400049.1:n.1052-38C>G | |
| ENST00000487596.1:n.618-38C>G | ||
| ENST00000533482.5:c.*678-38C>G | ENSP00000431225.1:n.*678-38C>G | |
| NM_005732.3:c.1052-38C>G | NP_005723.2:n.1052-38C>G | |
| NM_005732.4:c.1052-38C>G MANE Select | NP_005723.2:n.1052-38C>G |