Linked Data
dbSNP Id:
rs370760246
ExAC:
22:46748123 C / T
gnomAD v2:
22-46748123-C-T
gnomAD v3:
22-46352226-C-T
gnomAD v4:
22-46352226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46352226C>T , CM000684.2:g.46352226C>T | GRCh38 |
| NC_000022.10:g.46748123C>T , CM000684.1:g.46748123C>T | GRCh37 |
| NC_000022.9:g.45126787C>T | NCBI36 |
| NG_012173.1:g.21826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465378.6:n.754-38C>T | ||
| ENST00000642923.1:c.601-38C>T | ENSP00000494255.1:n.601-38C>T | |
| ENST00000643137.1:c.601-38C>T | ENSP00000495331.1:n.601-38C>T | |
| ENST00000644006.1:c.*150-38C>T | ENSP00000493778.1:n.*150-38C>T | |
| ENST00000645026.1:n.757-38C>T | ||
| ENST00000645190.1:c.706-38C>T MANE Select | ENSP00000496496.1:n.706-38C>T | |
| ENST00000647301.1:c.*150-38C>T | ENSP00000496641.1:n.*150-38C>T | |
| ENST00000290846.8:c.706-38C>T | ENSP00000290846.4:n.706-38C>T | |
| ENST00000381019.3:c.706-38C>T | ENSP00000370407.3:n.706-38C>T | |
| ENST00000381021.7:c.*299-38C>T | ENSP00000370409.3:n.*299-38C>T | |
| ENST00000441818.5:c.*240-38C>T | ENSP00000393014.1:n.*240-38C>T | |
| ENST00000453630.5:c.*244-38C>T | ENSP00000398488.1:n.*244-38C>T | |
| ENST00000456595.5:c.*240-38C>T | ENSP00000413880.1:n.*240-38C>T | |
| ENST00000457572.5:c.*150-38C>T | ENSP00000407700.1:n.*150-38C>T | |
| ENST00000463785.1:n.174-38C>T | ||
| ENST00000479648.1:n.526-38C>T | ||
| ENST00000485175.5:n.666-38C>T | ||
| ENST00000486620.5:n.748-38C>T | ||
| NM_001282782.1:c.364-38C>T | NP_001269711.1:n.364-38C>T | |
| NM_001282783.1:c.286-38C>T | NP_001269712.1:n.286-38C>T | |
| NM_001282784.1:c.286-38C>T | NP_001269713.1:n.286-38C>T | |
| NM_001282785.1:c.706-38C>T | NP_001269714.1:n.706-38C>T | |
| NM_018006.4:c.706-38C>T | NP_060476.2:n.706-38C>T | |
| NR_104240.1:n.1015-38C>T | ||
| NR_104241.1:n.908-38C>T | ||
| XM_005261678.1:c.310-38C>T | XP_005261735.1:n.310-38C>T | |
| XM_005261681.1:c.310-38C>T | XP_005261738.1:n.310-38C>T | |
| XM_011530271.1:c.601-38C>T | XP_011528573.1:n.601-38C>T | |
| XM_011530272.1:c.706-38C>T | XP_011528574.1:n.706-38C>T | |
| XM_011530273.1:c.706-38C>T | XP_011528575.1:n.706-38C>T | |
| XM_011530274.1:c.364-38C>T | XP_011528576.1:n.364-38C>T | |
| XM_011530275.1:c.310-38C>T | XP_011528577.1:n.310-38C>T | |
| XM_011530271.2:c.601-38C>T | XP_011528573.1:n.601-38C>T | |
| XM_011530272.2:c.706-38C>T | XP_011528574.1:n.706-38C>T | |
| XM_011530273.2:c.706-38C>T | XP_011528575.1:n.706-38C>T | |
| XM_011530274.2:c.364-38C>T | XP_011528576.1:n.364-38C>T | |
| XM_024452260.1:c.601-38C>T | XP_024308028.1:n.601-38C>T | |
| XR_001755261.2:n.752-38C>T | ||
| XR_001755262.2:n.752-38C>T | ||
| NM_018006.5:c.706-38C>T MANE Select | NP_060476.2:n.706-38C>T | |
| NM_001282782.2:c.364-38C>T | NP_001269711.1:n.364-38C>T | |
| NM_001282783.2:c.286-38C>T | NP_001269712.1:n.286-38C>T | |
| NM_001282784.2:c.286-38C>T | NP_001269713.1:n.286-38C>T | |
| NM_001282785.2:c.706-38C>T | NP_001269714.1:n.706-38C>T | |
| NR_104240.2:n.702-38C>T | ||
| NR_104241.2:n.595-38C>T |