Linked Data
dbSNP Id:
rs1151026
gnomAD v2:
12-32329169-A-G
gnomAD v3:
12-32176235-A-G
gnomAD v4:
12-32176235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32176235A>G , CM000674.2:g.32176235A>G | GRCh38 |
| NC_000012.11:g.32329169A>G , CM000674.1:g.32329169A>G | GRCh37 |
| NC_000012.10:g.32220436A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548411.6:c.214-40012A>G | ENSP00000446793.1:n.214-40012A>G | |
| ENST00000652176.1:c.214-40012A>G MANE Select | ENSP00000498700.1:n.214-40012A>G | |
| ENST00000281474.9:c.214-40012A>G | ENSP00000281474.5:n.214-40012A>G | |
| ENST00000395758.3:c.214-40012A>G | ENSP00000379107.3:n.214-40012A>G | |
| ENST00000548411.5:c.214-40012A>G | ENSP00000446793.1:n.214-40012A>G | |
| NM_001003398.1:c.214-40012A>G | NP_001003398.1:n.214-40012A>G | |
| NM_001714.2:c.214-40012A>G | NP_001705.2:n.214-40012A>G | |
| XM_005253465.2:c.214-40012A>G | XP_005253522.1:n.214-40012A>G | |
| XM_005253466.2:c.214-40012A>G | XP_005253523.1:n.214-40012A>G | |
| XM_006719134.2:c.214-40012A>G | XP_006719197.1:n.214-40012A>G | |
| XM_011520812.1:c.214-40012A>G | XP_011519114.1:n.214-40012A>G | |
| XM_011520813.1:c.214-40012A>G | XP_011519115.1:n.214-40012A>G | |
| XM_011520814.1:c.214-40012A>G | XP_011519116.1:n.214-40012A>G | |
| XM_011520815.1:c.214-40012A>G | XP_011519117.1:n.214-40012A>G | |
| XM_011520816.1:c.214-40012A>G | XP_011519118.1:n.214-40012A>G | |
| XR_242898.2:n.810-40012A>G | ||
| NM_001003398.2:c.214-40012A>G | NP_001003398.1:n.214-40012A>G | |
| NM_001354186.1:c.214-40012A>G | NP_001341115.1:n.214-40012A>G | |
| NM_001354187.1:c.214-40012A>G | NP_001341116.1:n.214-40012A>G | |
| NM_001354188.1:c.214-40012A>G | NP_001341117.1:n.214-40012A>G | |
| NM_001354189.1:c.214-40012A>G | NP_001341118.1:n.214-40012A>G | |
| NM_001363603.1:c.214-40012A>G | NP_001350532.1:n.214-40012A>G | |
| NM_001714.3:c.214-40012A>G | NP_001705.2:n.214-40012A>G | |
| NR_148725.1:n.739-40012A>G | ||
| XM_011520812.3:c.214-40012A>G | XP_011519114.1:n.214-40012A>G | |
| XM_011520813.2:c.214-40012A>G | XP_011519115.1:n.214-40012A>G | |
| XM_011520814.3:c.214-40012A>G | XP_011519116.1:n.214-40012A>G | |
| XM_011520815.3:c.214-40012A>G | XP_011519117.1:n.214-40012A>G | |
| XR_002957369.1:n.773-40012A>G | ||
| NM_001714.4:c.214-40012A>G MANE Select | NP_001705.2:n.214-40012A>G | |
| NM_001003398.3:c.214-40012A>G | NP_001003398.1:n.214-40012A>G | |
| NM_001354186.2:c.214-40012A>G | NP_001341115.1:n.214-40012A>G | |
| NM_001354187.2:c.214-40012A>G | NP_001341116.1:n.214-40012A>G | |
| NM_001354188.2:c.214-40012A>G | NP_001341117.1:n.214-40012A>G | |
| NM_001354189.2:c.214-40012A>G | NP_001341118.1:n.214-40012A>G | |
| NR_148725.2:n.699-40012A>G | ||
| NM_001363603.2:c.214-40012A>G | NP_001350532.1:n.214-40012A>G |