Linked Data
dbSNP Id:
rs10431397
gnomAD v2:
12-118106194-C-T
gnomAD v3:
12-117668389-C-T
gnomAD v4:
12-117668389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117668389C>T , CM000674.2:g.117668389C>T | GRCh38 |
| NC_000012.11:g.118106194C>T , CM000674.1:g.118106194C>T | GRCh37 |
| NC_000012.10:g.116590577C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339824.7:c.987-731G>A MANE Select | ENSP00000339952.4:n.987-731G>A | |
| ENST00000339824.6:c.987-731G>A | ENSP00000339952.4:n.987-731G>A | |
| ENST00000425217.5:c.900-731G>A | ENSP00000389715.1:n.900-731G>A | |
| ENST00000545002.1:n.133-731G>A | ||
| NM_173598.4:c.900-731G>A | NP_775869.3:n.900-731G>A | |
| XM_011538224.1:c.987-731G>A | XP_011536526.1:n.987-731G>A | |
| XM_011538225.1:c.624-731G>A | XP_011536527.1:n.624-731G>A | |
| XM_011538226.1:c.987-731G>A | XP_011536528.1:n.987-731G>A | |
| XM_011538227.1:c.123-731G>A | XP_011536529.1:n.123-731G>A | |
| XM_011538228.1:c.78-731G>A | XP_011536530.1:n.78-731G>A | |
| XM_011538229.1:c.987-731G>A | XP_011536531.1:n.987-731G>A | |
| XR_944522.1:n.1821-731G>A | ||
| XM_011538224.3:c.987-731G>A | XP_011536526.1:n.987-731G>A | |
| XM_011538225.3:c.624-731G>A | XP_011536527.1:n.624-731G>A | |
| XM_011538226.3:c.987-731G>A | XP_011536528.1:n.987-731G>A | |
| XM_011538229.3:c.987-731G>A | XP_011536531.1:n.987-731G>A | |
| XM_017019208.2:c.987-731G>A | XP_016874697.1:n.987-731G>A | |
| XM_017019209.2:c.987-731G>A | XP_016874698.1:n.987-731G>A | |
| NM_173598.6:c.987-731G>A MANE Select | NP_775869.4:n.987-731G>A |