Linked Data
dbSNP Id:
rs10514585
gnomAD v2:
16-83284338-G-A
gnomAD v3:
16-83250733-G-A
gnomAD v4:
16-83250733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83250733G>A , CM000678.2:g.83250733G>A | GRCh38 |
| NC_000016.9:g.83284338G>A , CM000678.1:g.83284338G>A | GRCh37 |
| NC_000016.8:g.81841839G>A | NCBI36 |
| NG_052819.1:g.628940G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.636+33236G>A MANE Select | ENSP00000479395.1:n.636+33236G>A | |
| ENST00000268613.14:c.777+33236G>A | ENSP00000268613.10:n.777+33236G>A | |
| ENST00000428848.7:c.519+33236G>A | ENSP00000394557.3:n.519+33236G>A | |
| ENST00000539548.6:c.*268+33236G>A | ENSP00000442225.2:n.*268+33236G>A | |
| ENST00000566620.5:c.600+33236G>A | ENSP00000454435.3:n.600+33236G>A | |
| ENST00000567109.5:c.636+33236G>A | ENSP00000479395.1:n.636+33236G>A | |
| ENST00000569454.1:n.553+33236G>A | ||
| ENST00000622885.4:c.480+33236G>A | ENSP00000483719.1:n.480+33236G>A | |
| NM_001220488.1:c.777+33236G>A | NP_001207417.1:n.777+33236G>A | |
| NM_001220489.1:c.519+33236G>A | NP_001207418.1:n.519+33236G>A | |
| NM_001220490.1:c.-127+33236G>A | NP_001207419.1:n.-127+33236G>A | |
| NM_001257.4:c.636+33236G>A | NP_001248.1:n.636+33236G>A | |
| XM_011522804.1:c.333+33236G>A | XP_011521106.1:n.333+33236G>A | |
| XM_011522805.1:c.777+33236G>A | XP_011521107.1:n.777+33236G>A | |
| XM_011522804.3:c.333+33236G>A | XP_011521106.1:n.333+33236G>A | |
| XM_017022848.2:c.777+33236G>A | XP_016878337.1:n.777+33236G>A | |
| NM_001257.5:c.636+33236G>A MANE Select | NP_001248.1:n.636+33236G>A | |
| NM_001220488.2:c.777+33236G>A | NP_001207417.1:n.777+33236G>A | |
| NM_001220489.2:c.519+33236G>A | NP_001207418.1:n.519+33236G>A | |
| NM_001220490.2:c.-127+33236G>A | NP_001207419.1:n.-127+33236G>A |