Linked Data
dbSNP Id:
rs12828172
gnomAD v2:
12-117928182-C-T
gnomAD v3:
12-117490377-C-T
gnomAD v4:
12-117490377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117490377C>T , CM000674.2:g.117490377C>T | GRCh38 |
| NC_000012.11:g.117928182C>T , CM000674.1:g.117928182C>T | GRCh37 |
| NC_000012.10:g.116412565C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339824.7:c.2220-4686G>A MANE Select | ENSP00000339952.4:n.2220-4686G>A | |
| ENST00000339824.6:c.2220-4686G>A | ENSP00000339952.4:n.2220-4686G>A | |
| ENST00000425217.5:c.2133-4686G>A | ENSP00000389715.1:n.2133-4686G>A | |
| NM_173598.4:c.2133-4686G>A | NP_775869.3:n.2133-4686G>A | |
| XM_011538224.1:c.2214-4686G>A | XP_011536526.1:n.2214-4686G>A | |
| XM_011538225.1:c.1857-4686G>A | XP_011536527.1:n.1857-4686G>A | |
| XM_011538227.1:c.1356-4686G>A | XP_011536529.1:n.1356-4686G>A | |
| XM_011538228.1:c.1311-4686G>A | XP_011536530.1:n.1311-4686G>A | |
| XM_011538230.1:c.960-4686G>A | XP_011536532.1:n.960-4686G>A | |
| XR_944522.1:n.3054-4686G>A | ||
| XM_011538224.3:c.2214-4686G>A | XP_011536526.1:n.2214-4686G>A | |
| XM_011538225.3:c.1857-4686G>A | XP_011536527.1:n.1857-4686G>A | |
| XM_017019208.2:c.2220-4686G>A | XP_016874697.1:n.2220-4686G>A | |
| XM_017019210.2:c.915-4686G>A | XP_016874699.1:n.915-4686G>A | |
| NM_173598.6:c.2220-4686G>A MANE Select | NP_775869.4:n.2220-4686G>A |