Linked Data
dbSNP Id:
rs1555587302
gnomAD v2:
16-83652913-A-G
gnomAD v3:
16-83619308-A-G
gnomAD v4:
16-83619308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83619308A>G , CM000678.2:g.83619308A>G | GRCh38 |
| NC_000016.9:g.83652913A>G , CM000678.1:g.83652913A>G | GRCh37 |
| NC_000016.8:g.82210414A>G | NCBI36 |
| NG_052819.1:g.997515A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.1101+16714A>G MANE Select | ENSP00000479395.1:n.1101+16714A>G | |
| ENST00000268613.14:c.1242+16714A>G | ENSP00000268613.10:n.1242+16714A>G | |
| ENST00000428848.7:c.984+16714A>G | ENSP00000394557.3:n.984+16714A>G | |
| ENST00000539548.6:c.*733+16714A>G | ENSP00000442225.2:n.*733+16714A>G | |
| ENST00000566620.5:c.1065+16714A>G | ENSP00000454435.3:n.1065+16714A>G | |
| ENST00000567109.5:c.1101+16714A>G | ENSP00000479395.1:n.1101+16714A>G | |
| ENST00000622885.4:c.945+16714A>G | ENSP00000483719.1:n.945+16714A>G | |
| NM_001220488.1:c.1242+16714A>G | NP_001207417.1:n.1242+16714A>G | |
| NM_001220489.1:c.984+16714A>G | NP_001207418.1:n.984+16714A>G | |
| NM_001220490.1:c.339+16714A>G | NP_001207419.1:n.339+16714A>G | |
| NM_001257.4:c.1101+16714A>G | NP_001248.1:n.1101+16714A>G | |
| XM_011522804.1:c.798+16714A>G | XP_011521106.1:n.798+16714A>G | |
| XM_011522804.3:c.798+16714A>G | XP_011521106.1:n.798+16714A>G | |
| NM_001257.5:c.1101+16714A>G MANE Select | NP_001248.1:n.1101+16714A>G | |
| NM_001220488.2:c.1242+16714A>G | NP_001207417.1:n.1242+16714A>G | |
| NM_001220489.2:c.984+16714A>G | NP_001207418.1:n.984+16714A>G | |
| NM_001220490.2:c.339+16714A>G | NP_001207419.1:n.339+16714A>G |