Linked Data
dbSNP Id:
rs17216786
gnomAD v2:
16-83487471-C-A
gnomAD v3:
16-83453866-C-A
gnomAD v4:
16-83453866-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83453866C>A , CM000678.2:g.83453866C>A | GRCh38 |
| NC_000016.9:g.83487471C>A , CM000678.1:g.83487471C>A | GRCh37 |
| NC_000016.8:g.82044972C>A | NCBI36 |
| NG_052819.1:g.832073C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.782-32611C>A MANE Select | ENSP00000479395.1:n.782-32611C>A | |
| ENST00000268613.14:c.923-32611C>A | ENSP00000268613.10:n.923-32611C>A | |
| ENST00000428848.7:c.665-32611C>A | ENSP00000394557.3:n.665-32611C>A | |
| ENST00000539548.6:c.*414-32611C>A | ENSP00000442225.2:n.*414-32611C>A | |
| ENST00000566620.5:c.746-32611C>A | ENSP00000454435.3:n.746-32611C>A | |
| ENST00000567109.5:c.782-32611C>A | ENSP00000479395.1:n.782-32611C>A | |
| ENST00000569454.1:n.699-32611C>A | ||
| ENST00000622885.4:c.626-32611C>A | ENSP00000483719.1:n.626-32611C>A | |
| NM_001220488.1:c.923-32611C>A | NP_001207417.1:n.923-32611C>A | |
| NM_001220489.1:c.665-32611C>A | NP_001207418.1:n.665-32611C>A | |
| NM_001220490.1:c.20-32611C>A | NP_001207419.1:n.20-32611C>A | |
| NM_001257.4:c.782-32611C>A | NP_001248.1:n.782-32611C>A | |
| XM_011522804.1:c.479-32611C>A | XP_011521106.1:n.479-32611C>A | |
| XM_011522805.1:c.923-32611C>A | XP_011521107.1:n.923-32611C>A | |
| XM_011522804.3:c.479-32611C>A | XP_011521106.1:n.479-32611C>A | |
| XM_017022848.2:c.923-32611C>A | XP_016878337.1:n.923-32611C>A | |
| NM_001257.5:c.782-32611C>A MANE Select | NP_001248.1:n.782-32611C>A | |
| NM_001220488.2:c.923-32611C>A | NP_001207417.1:n.923-32611C>A | |
| NM_001220489.2:c.665-32611C>A | NP_001207418.1:n.665-32611C>A | |
| NM_001220490.2:c.20-32611C>A | NP_001207419.1:n.20-32611C>A |