Linked Data
dbSNP Id:
rs1032616352
gnomAD v2:
8-118089552-C-G
gnomAD v3:
8-117077313-C-G
gnomAD v4:
8-117077313-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117077313C>G , CM000670.2:g.117077313C>G | GRCh38 |
| NC_000008.10:g.118089552C>G , CM000670.1:g.118089552C>G | GRCh37 |
| NC_000008.9:g.118158733C>G | NCBI36 |
| NG_016991.1:g.132041C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427715.2:c.-226+38055C>G | ENSP00000407505.2:n.-226+38055C>G | |
| ENST00000521035.5:n.295-57919C>G | ||
| ENST00000521243.5:c.-106-69506C>G | ENSP00000428545.1:n.-106-69506C>G | |
| ENST00000524274.5:c.-106-69506C>G | ENSP00000427760.1:n.-106-69506C>G | |
| NM_001172811.1:c.-106-69506C>G | NP_001166282.1:n.-106-69506C>G | |
| NM_001172813.1:c.-273-57919C>G | NP_001166284.1:n.-273-57919C>G | |
| NM_001172815.1:c.-226+38055C>G | NP_001166286.1:n.-226+38055C>G | |
| XM_011516881.1:c.-96-57919C>G | XP_011515183.1:n.-96-57919C>G | |
| NM_001172815.2:c.-226+38055C>G | NP_001166286.1:n.-226+38055C>G | |
| XM_024447083.1:c.-106-69506C>G | XP_024302851.1:n.-106-69506C>G | |
| NM_001172811.2:c.-106-69506C>G | NP_001166282.1:n.-106-69506C>G | |
| NM_001172813.2:c.-273-57919C>G | NP_001166284.1:n.-273-57919C>G | |
| NM_001172815.3:c.-226+38055C>G | NP_001166286.1:n.-226+38055C>G |