Linked Data
dbSNP Id:
rs572724589
gnomAD v2:
16-83326191-A-G
gnomAD v3:
16-83292586-A-G
gnomAD v4:
16-83292586-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83292586A>G , CM000678.2:g.83292586A>G | GRCh38 |
| NC_000016.9:g.83326191A>G , CM000678.1:g.83326191A>G | GRCh37 |
| NC_000016.8:g.81883692A>G | NCBI36 |
| NG_052819.1:g.670793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.637-52276A>G MANE Select | ENSP00000479395.1:n.637-52276A>G | |
| ENST00000268613.14:c.778-52276A>G | ENSP00000268613.10:n.778-52276A>G | |
| ENST00000428848.7:c.520-52276A>G | ENSP00000394557.3:n.520-52276A>G | |
| ENST00000539548.6:c.*269-52276A>G | ENSP00000442225.2:n.*269-52276A>G | |
| ENST00000566620.5:c.601-52276A>G | ENSP00000454435.3:n.601-52276A>G | |
| ENST00000567109.5:c.637-52276A>G | ENSP00000479395.1:n.637-52276A>G | |
| ENST00000569454.1:n.554-52276A>G | ||
| ENST00000622885.4:c.481-52276A>G | ENSP00000483719.1:n.481-52276A>G | |
| NM_001220488.1:c.778-52276A>G | NP_001207417.1:n.778-52276A>G | |
| NM_001220489.1:c.520-52276A>G | NP_001207418.1:n.520-52276A>G | |
| NM_001220490.1:c.-126-52276A>G | NP_001207419.1:n.-126-52276A>G | |
| NM_001257.4:c.637-52276A>G | NP_001248.1:n.637-52276A>G | |
| XM_011522804.1:c.334-52276A>G | XP_011521106.1:n.334-52276A>G | |
| XM_011522805.1:c.778-52276A>G | XP_011521107.1:n.778-52276A>G | |
| XM_011522804.3:c.334-52276A>G | XP_011521106.1:n.334-52276A>G | |
| XM_017022848.2:c.778-52276A>G | XP_016878337.1:n.778-52276A>G | |
| NM_001257.5:c.637-52276A>G MANE Select | NP_001248.1:n.637-52276A>G | |
| NM_001220488.2:c.778-52276A>G | NP_001207417.1:n.778-52276A>G | |
| NM_001220489.2:c.520-52276A>G | NP_001207418.1:n.520-52276A>G | |
| NM_001220490.2:c.-126-52276A>G | NP_001207419.1:n.-126-52276A>G |