Linked Data
dbSNP Id:
rs7726839
gnomAD v2:
5-618586-A-G
gnomAD v3:
5-618471-A-G
gnomAD v4:
5-618471-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.618471A>G , CM000667.2:g.618471A>G | GRCh38 |
| NC_000005.9:g.618586A>G , CM000667.1:g.618586A>G | GRCh37 |
| NC_000005.8:g.671586A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264935.6:c.83-519A>G MANE Select | ENSP00000264935.5:n.83-519A>G | |
| ENST00000264935.5:c.83-519A>G | ENSP00000264935.5:n.83-519A>G | |
| NM_018140.3:c.83-519A>G | NP_060610.2:n.83-519A>G | |
| XM_005248322.2:c.-68-519A>G | XP_005248379.1:n.-68-519A>G | |
| XM_011514063.1:c.83-519A>G | XP_011512365.1:n.83-519A>G | |
| XM_011514064.1:c.-68-519A>G | XP_011512366.1:n.-68-519A>G | |
| XM_011514065.1:c.-68-519A>G | XP_011512367.1:n.-68-519A>G | |
| XM_011514066.1:c.-68-519A>G | XP_011512368.1:n.-68-519A>G | |
| XR_925628.1:n.101-519A>G | ||
| XR_925630.1:n.101-519A>G | ||
| XR_925631.1:n.101-519A>G | ||
| XM_005248322.3:c.-68-519A>G | XP_005248379.1:n.-68-519A>G | |
| XM_011514064.2:c.-68-519A>G | XP_011512366.1:n.-68-519A>G | |
| XM_017009626.1:c.-376-519A>G | XP_016865115.1:n.-376-519A>G | |
| XM_017009627.1:c.-376-519A>G | XP_016865116.1:n.-376-519A>G | |
| XR_001742146.1:n.95-519A>G | ||
| XR_001742147.2:n.78-519A>G | ||
| XR_001742148.1:n.25-519A>G | ||
| XR_001742149.1:n.208-519A>G | ||
| XR_925630.2:n.101-519A>G | ||
| XR_925631.2:n.101-519A>G | ||
| NM_018140.4:c.83-519A>G MANE Select | NP_060610.2:n.83-519A>G | |
| NR_164122.1:n.263-519A>G |