Linked Data
dbSNP Id:
rs7500599
gnomAD v2:
16-83091869-G-T
gnomAD v3:
16-83058264-G-T
gnomAD v4:
16-83058264-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83058264G>T , CM000678.2:g.83058264G>T | GRCh38 |
| NC_000016.9:g.83091869G>T , CM000678.1:g.83091869G>T | GRCh37 |
| NC_000016.8:g.81649370G>T | NCBI36 |
| NG_052819.1:g.436471G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.366+26046G>T MANE Select | ENSP00000479395.1:n.366+26046G>T | |
| ENST00000268613.14:c.507+26046G>T | ENSP00000268613.10:n.507+26046G>T | |
| ENST00000428848.7:c.366+26046G>T | ENSP00000394557.3:n.366+26046G>T | |
| ENST00000431540.7:c.366+26046G>T | ENSP00000408632.3:n.366+26046G>T | |
| ENST00000539548.6:c.158-67121G>T | ENSP00000442225.2:n.158-67121G>T | |
| ENST00000565636.5:c.366+26046G>T | ENSP00000456491.1:n.366+26046G>T | |
| ENST00000566620.5:c.330+26046G>T | ENSP00000454435.3:n.330+26046G>T | |
| ENST00000567109.5:c.366+26046G>T | ENSP00000479395.1:n.366+26046G>T | |
| ENST00000569454.1:n.283+26046G>T | ||
| ENST00000622885.4:c.327+26046G>T | ENSP00000483719.1:n.327+26046G>T | |
| NM_001220488.1:c.507+26046G>T | NP_001207417.1:n.507+26046G>T | |
| NM_001220489.1:c.366+26046G>T | NP_001207418.1:n.366+26046G>T | |
| NM_001220490.1:c.-396-67121G>T | NP_001207419.1:n.-396-67121G>T | |
| NM_001220491.1:c.366+26046G>T | NP_001207420.1:n.366+26046G>T | |
| NM_001220492.1:c.366+26046G>T | NP_001207421.1:n.366+26046G>T | |
| NM_001257.4:c.366+26046G>T | NP_001248.1:n.366+26046G>T | |
| XM_011522805.1:c.507+26046G>T | XP_011521107.1:n.507+26046G>T | |
| XM_017022848.2:c.507+26046G>T | XP_016878337.1:n.507+26046G>T | |
| XM_017022849.2:c.507+26046G>T | XP_016878338.1:n.507+26046G>T | |
| NM_001257.5:c.366+26046G>T MANE Select | NP_001248.1:n.366+26046G>T | |
| NM_001220488.2:c.507+26046G>T | NP_001207417.1:n.507+26046G>T | |
| NM_001220489.2:c.366+26046G>T | NP_001207418.1:n.366+26046G>T | |
| NM_001220490.2:c.-396-67121G>T | NP_001207419.1:n.-396-67121G>T | |
| NM_001220491.2:c.366+26046G>T | NP_001207420.1:n.366+26046G>T | |
| NM_001220492.2:c.366+26046G>T | NP_001207421.1:n.366+26046G>T |