Linked Data
dbSNP Id:
rs168924
gnomAD v2:
16-55689544-A-G
gnomAD v3:
16-55655632-A-G
gnomAD v4:
16-55655632-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55655632A>G , CM000678.2:g.55655632A>G | GRCh38 |
| NC_000016.9:g.55689544A>G , CM000678.1:g.55689544A>G | GRCh37 |
| NC_000016.8:g.54247045A>G | NCBI36 |
| NG_016969.1:g.5003A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568943.5:c.-589A>G | ENSP00000457473.1:n.-589A>G | |
| NM_001172501.1:c.-589A>G | NP_001165972.1:n.-589A>G | |
| XM_011523295.1:c.-589A>G | XP_011521597.1:n.-589A>G | |
| XM_011523296.1:c.-589A>G | XP_011521598.1:n.-589A>G | |
| XM_011523297.1:c.-589A>G | XP_011521599.1:n.-589A>G | |
| XM_011523298.1:c.-589A>G | XP_011521600.1:n.-589A>G | |
| XR_933403.1:n.29A>G | ||
| XR_933603.1:n.21T>C |