Linked Data
dbSNP Id:
rs8055236
gnomAD v2:
16-83212398-G-T
gnomAD v3:
16-83178793-G-T
gnomAD v4:
16-83178793-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83178793G>T , CM000678.2:g.83178793G>T | GRCh38 |
| NC_000016.9:g.83212398G>T , CM000678.1:g.83212398G>T | GRCh37 |
| NC_000016.8:g.81769899G>T | NCBI36 |
| NG_052819.1:g.557000G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.484-38552G>T MANE Select | ENSP00000479395.1:n.484-38552G>T | |
| ENST00000268613.14:c.625-38552G>T | ENSP00000268613.10:n.625-38552G>T | |
| ENST00000428848.7:c.367-38552G>T | ENSP00000394557.3:n.367-38552G>T | |
| ENST00000431540.7:c.484-2077G>T | ENSP00000408632.3:n.484-2077G>T | |
| ENST00000539548.6:c.*116-38552G>T | ENSP00000442225.2:n.*116-38552G>T | |
| ENST00000565636.5:c.*6-2079G>T | ENSP00000456491.1:n.*6-2079G>T | |
| ENST00000566620.5:c.448-38552G>T | ENSP00000454435.3:n.448-38552G>T | |
| ENST00000567109.5:c.484-38552G>T | ENSP00000479395.1:n.484-38552G>T | |
| ENST00000569454.1:n.401-38552G>T | ||
| ENST00000622885.4:c.328-38552G>T | ENSP00000483719.1:n.328-38552G>T | |
| NM_001220488.1:c.625-38552G>T | NP_001207417.1:n.625-38552G>T | |
| NM_001220489.1:c.367-38552G>T | NP_001207418.1:n.367-38552G>T | |
| NM_001220490.1:c.-279-38552G>T | NP_001207419.1:n.-279-38552G>T | |
| NM_001220491.1:c.484-2077G>T | NP_001207420.1:n.484-2077G>T | |
| NM_001220492.1:c.*2-2075G>T | NP_001207421.1:n.*2-2075G>T | |
| NM_001257.4:c.484-38552G>T | NP_001248.1:n.484-38552G>T | |
| XM_011522804.1:c.181-38552G>T | XP_011521106.1:n.181-38552G>T | |
| XM_011522805.1:c.625-38552G>T | XP_011521107.1:n.625-38552G>T | |
| XM_011522804.3:c.181-38552G>T | XP_011521106.1:n.181-38552G>T | |
| XM_017022848.2:c.625-38552G>T | XP_016878337.1:n.625-38552G>T | |
| XM_017022849.2:c.625-2077G>T | XP_016878338.1:n.625-2077G>T | |
| NM_001257.5:c.484-38552G>T MANE Select | NP_001248.1:n.484-38552G>T | |
| NM_001220488.2:c.625-38552G>T | NP_001207417.1:n.625-38552G>T | |
| NM_001220489.2:c.367-38552G>T | NP_001207418.1:n.367-38552G>T | |
| NM_001220490.2:c.-279-38552G>T | NP_001207419.1:n.-279-38552G>T | |
| NM_001220491.2:c.484-2077G>T | NP_001207420.1:n.484-2077G>T | |
| NM_001220492.2:c.*2-2075G>T | NP_001207421.1:n.*2-2075G>T |