Linked Data
dbSNP Id:
rs11149566
gnomAD v2:
16-83442229-A-G
gnomAD v3:
16-83408624-A-G
gnomAD v4:
16-83408624-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83408624A>G , CM000678.2:g.83408624A>G | GRCh38 |
| NC_000016.9:g.83442229A>G , CM000678.1:g.83442229A>G | GRCh37 |
| NC_000016.8:g.81999730A>G | NCBI36 |
| NG_052819.1:g.786831A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.781+63618A>G MANE Select | ENSP00000479395.1:n.781+63618A>G | |
| ENST00000268613.14:c.922+63618A>G | ENSP00000268613.10:n.922+63618A>G | |
| ENST00000428848.7:c.664+63618A>G | ENSP00000394557.3:n.664+63618A>G | |
| ENST00000539548.6:c.*413+63618A>G | ENSP00000442225.2:n.*413+63618A>G | |
| ENST00000566620.5:c.745+63618A>G | ENSP00000454435.3:n.745+63618A>G | |
| ENST00000567109.5:c.781+63618A>G | ENSP00000479395.1:n.781+63618A>G | |
| ENST00000569454.1:n.698+63618A>G | ||
| ENST00000622885.4:c.625+63618A>G | ENSP00000483719.1:n.625+63618A>G | |
| NM_001220488.1:c.922+63618A>G | NP_001207417.1:n.922+63618A>G | |
| NM_001220489.1:c.664+63618A>G | NP_001207418.1:n.664+63618A>G | |
| NM_001220490.1:c.19+63618A>G | NP_001207419.1:n.19+63618A>G | |
| NM_001257.4:c.781+63618A>G | NP_001248.1:n.781+63618A>G | |
| XM_011522804.1:c.478+63618A>G | XP_011521106.1:n.478+63618A>G | |
| XM_011522805.1:c.922+63618A>G | XP_011521107.1:n.922+63618A>G | |
| XM_011522804.3:c.478+63618A>G | XP_011521106.1:n.478+63618A>G | |
| XM_017022848.2:c.922+63618A>G | XP_016878337.1:n.922+63618A>G | |
| NM_001257.5:c.781+63618A>G MANE Select | NP_001248.1:n.781+63618A>G | |
| NM_001220488.2:c.922+63618A>G | NP_001207417.1:n.922+63618A>G | |
| NM_001220489.2:c.664+63618A>G | NP_001207418.1:n.664+63618A>G | |
| NM_001220490.2:c.19+63618A>G | NP_001207419.1:n.19+63618A>G |