Linked Data
dbSNP Id:
rs11646411
gnomAD v2:
16-82746937-C-G
gnomAD v3:
16-82713332-C-G
gnomAD v4:
16-82713332-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82713332C>G , CM000678.2:g.82713332C>G | GRCh38 |
| NC_000016.9:g.82746937C>G , CM000678.1:g.82746937C>G | GRCh37 |
| NC_000016.8:g.81304438C>G | NCBI36 |
| NG_052819.1:g.91539C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.45+86195C>G MANE Select | ENSP00000479395.1:n.45+86195C>G | |
| ENST00000268613.14:c.186+73867C>G | ENSP00000268613.10:n.186+73867C>G | |
| ENST00000428848.7:c.45+86195C>G | ENSP00000394557.3:n.45+86195C>G | |
| ENST00000431540.7:c.45+86195C>G | ENSP00000408632.3:n.45+86195C>G | |
| ENST00000539548.6:c.45+86195C>G | ENSP00000442225.2:n.45+86195C>G | |
| ENST00000562601.5:c.*54+8058C>G | ENSP00000455781.1:n.*54+8058C>G | |
| ENST00000565636.5:c.45+86195C>G | ENSP00000456491.1:n.45+86195C>G | |
| ENST00000566333.1:n.167+86195C>G | ||
| ENST00000567109.5:c.45+86195C>G | ENSP00000479395.1:n.45+86195C>G | |
| ENST00000567445.1:c.45+86195C>G | ENSP00000456297.1:n.45+86195C>G | |
| ENST00000568770.5:c.46-6030C>G | ENSP00000457149.1:n.46-6030C>G | |
| ENST00000569144.5:c.45+86195C>G | ENSP00000457914.1:n.45+86195C>G | |
| ENST00000569455.1:n.451-9689C>G | ||
| NM_001220488.1:c.186+73867C>G | NP_001207417.1:n.186+73867C>G | |
| NM_001220489.1:c.45+86195C>G | NP_001207418.1:n.45+86195C>G | |
| NM_001220490.1:c.-509+86195C>G | NP_001207419.1:n.-509+86195C>G | |
| NM_001220491.1:c.45+86195C>G | NP_001207420.1:n.45+86195C>G | |
| NM_001220492.1:c.45+86195C>G | NP_001207421.1:n.45+86195C>G | |
| NM_001257.4:c.45+86195C>G | NP_001248.1:n.45+86195C>G | |
| XM_011522805.1:c.186+73867C>G | XP_011521107.1:n.186+73867C>G | |
| XR_933806.1:n.607-1601G>C | ||
| XR_933807.1:n.607-1601G>C | ||
| XM_017022848.2:c.186+73867C>G | XP_016878337.1:n.186+73867C>G | |
| XM_017022849.2:c.186+73867C>G | XP_016878338.1:n.186+73867C>G | |
| NM_001257.5:c.45+86195C>G MANE Select | NP_001248.1:n.45+86195C>G | |
| NM_001220488.2:c.186+73867C>G | NP_001207417.1:n.186+73867C>G | |
| NM_001220489.2:c.45+86195C>G | NP_001207418.1:n.45+86195C>G | |
| NM_001220490.2:c.-509+86195C>G | NP_001207419.1:n.-509+86195C>G | |
| NM_001220491.2:c.45+86195C>G | NP_001207420.1:n.45+86195C>G | |
| NM_001220492.2:c.45+86195C>G | NP_001207421.1:n.45+86195C>G |