Linked Data
dbSNP Id:
rs175162
gnomAD v2:
22-20113253-T-G
gnomAD v3:
22-20125730-T-G
gnomAD v4:
22-20125730-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20125730T>G , CM000684.2:g.20125730T>G | GRCh38 |
| NC_000022.10:g.20113253T>G , CM000684.1:g.20113253T>G | GRCh37 |
| NC_000022.9:g.18493253T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331821.8:c.439+294T>G | ENSP00000327583.3:n.439+294T>G | |
| ENST00000448394.3:c.*206+294T>G | ENSP00000516768.1:n.*206+294T>G | |
| ENST00000430524.6:c.670+294T>G MANE Select | ENSP00000401564.2:n.670+294T>G | |
| ENST00000331821.7:c.439+294T>G | ENSP00000327583.3:n.439+294T>G | |
| ENST00000402752.5:c.439+294T>G | ENSP00000384925.1:n.439+294T>G | |
| ENST00000418705.2:c.289+294T>G | ENSP00000413502.2:n.289+294T>G | |
| ENST00000423859.5:c.289+294T>G | ENSP00000404298.1:n.289+294T>G | |
| ENST00000430524.5:c.670+294T>G | ENSP00000401564.2:n.670+294T>G | |
| ENST00000435265.5:c.*531+294T>G | ENSP00000390139.1:n.*531+294T>G | |
| ENST00000448394.2:n.220+294T>G | ||
| ENST00000486575.1:n.1298+294T>G | ||
| NM_001278639.1:c.670+294T>G | NP_001265568.1:n.670+294T>G | |
| NM_001278640.1:c.439+294T>G | NP_001265569.1:n.439+294T>G | |
| NM_001278641.1:c.289+294T>G | NP_001265570.1:n.289+294T>G | |
| NM_002882.3:c.439+294T>G | NP_002873.1:n.439+294T>G | |
| XM_011530289.1:c.*118T>G | XP_011528591.1:n.*118T>G | |
| XM_011530290.1:c.169+294T>G | XP_011528592.1:n.169+294T>G | |
| XM_011530291.1:c.289+294T>G | XP_011528593.1:n.289+294T>G | |
| XM_011530292.1:c.169+294T>G | XP_011528594.1:n.169+294T>G | |
| XM_011530289.3:c.*118T>G | XP_011528591.1:n.*118T>G | |
| XM_011530290.2:c.169+294T>G | XP_011528592.1:n.169+294T>G | |
| XM_011530291.3:c.289+294T>G | XP_011528593.1:n.289+294T>G | |
| XM_017028890.2:c.439+294T>G | XP_016884379.1:n.439+294T>G | |
| XM_017028891.1:c.289+294T>G | XP_016884380.1:n.289+294T>G | |
| XM_017028892.1:c.289+294T>G | XP_016884381.1:n.289+294T>G | |
| NM_001278639.2:c.670+294T>G MANE Select | NP_001265568.1:n.670+294T>G | |
| NM_001278640.2:c.439+294T>G | NP_001265569.1:n.439+294T>G | |
| NM_001278641.2:c.289+294T>G | NP_001265570.1:n.289+294T>G | |
| NM_002882.4:c.439+294T>G | NP_002873.1:n.439+294T>G |