Linked Data
dbSNP Id:
rs2069812
gnomAD v2:
5-131879916-A-G
gnomAD v3:
5-132544224-A-G
gnomAD v4:
5-132544224-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132544224A>G , CM000667.2:g.132544224A>G | GRCh38 |
| NC_000005.9:g.131879916A>G , CM000667.1:g.131879916A>G | GRCh37 |
| NC_000005.8:g.131907815A>G | NCBI36 |
| NG_033019.1:g.4299T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638452.2:c.-168-15060A>G | ENSP00000492349.2:n.-168-15060A>G | |
| ENST00000638504.1:n.207-15060A>G | ||
| ENST00000638568.2:c.-310-12108A>G | ENSP00000491158.2:n.-310-12108A>G | |
| ENST00000639899.1:n.290-15060A>G | ||
| ENST00000640655.2:c.-168-15060A>G | ENSP00000491596.2:n.-168-15060A>G | |
| ENST00000450655.1:c.43-1098T>C | ENSP00000409825.1:n.43-1098T>C | |
| XM_005271988.2:c.43-722T>C | XP_005272045.1:n.43-722T>C | |
| XM_006714601.2:c.43-665T>C | XP_006714664.1:n.43-665T>C | |
| XM_011543373.1:c.-24-722T>C | XP_011541675.1:n.-24-722T>C | |
| XM_011543374.1:c.-77-669T>C | XP_011541676.1:n.-77-669T>C | |
| XM_011543375.1:c.43-1098T>C | XP_011541677.1:n.43-1098T>C | |
| XM_005271988.4:c.43-722T>C | XP_005272045.1:n.43-722T>C | |
| XM_011543373.3:c.-24-722T>C | XP_011541675.1:n.-24-722T>C | |
| XM_011543374.3:c.-77-669T>C | XP_011541676.1:n.-77-669T>C |