Linked Data
ClinVar Variation Id:
594922
ClinVar RCV Id:
RCV000730325
dbSNP Id:
rs1569082148
gnomAD v4:
22-46352298-T-C
COSMIC:
COSM3694119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46352298T>C , CM000684.2:g.46352298T>C | GRCh38 |
| NC_000022.10:g.46748195T>C , CM000684.1:g.46748195T>C | GRCh37 |
| NC_000022.9:g.45126859T>C | NCBI36 |
| NG_012173.1:g.21898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465378.6:n.788T>C | ||
| ENST00000642923.1:c.635T>C | ENSP00000494255.1:p.Ile212Thr | |
| ENST00000643137.1:c.635T>C | ENSP00000495331.1:p.Ile212Thr | |
| ENST00000644006.1:c.*184T>C | ENSP00000493778.1:n.*184T>C | |
| ENST00000645026.1:n.791T>C | ||
| ENST00000645190.1:c.740T>C MANE Select | ENSP00000496496.1:p.Ile247Thr | |
| ENST00000647301.1:c.*184T>C | ENSP00000496641.1:n.*184T>C | |
| ENST00000290846.8:c.740T>C | ENSP00000290846.4:p.Ile247Thr | |
| ENST00000381019.3:c.740T>C | ENSP00000370407.3:p.Ile247Thr | |
| ENST00000381021.7:c.*333T>C | ENSP00000370409.3:n.*333T>C | |
| ENST00000441818.5:c.*274T>C | ENSP00000393014.1:n.*274T>C | |
| ENST00000453630.5:c.*278T>C | ENSP00000398488.1:n.*278T>C | |
| ENST00000456595.5:c.*274T>C | ENSP00000413880.1:n.*274T>C | |
| ENST00000457572.5:c.*184T>C | ENSP00000407700.1:n.*184T>C | |
| ENST00000463785.1:n.208T>C | ||
| ENST00000479648.1:n.560T>C | ||
| ENST00000485175.5:n.700T>C | ||
| ENST00000486620.5:n.782T>C | ||
| NM_001282782.1:c.398T>C | NP_001269711.1:p.Ile133Thr | |
| NM_001282783.1:c.320T>C | NP_001269712.1:p.Ile107Thr | |
| NM_001282784.1:c.320T>C | NP_001269713.1:p.Ile107Thr | |
| NM_001282785.1:c.740T>C | NP_001269714.1:p.Ile247Thr | |
| NM_018006.4:c.740T>C | NP_060476.2:p.Ile247Thr | |
| NR_104240.1:n.1049T>C | ||
| NR_104241.1:n.942T>C | ||
| XM_005261678.1:c.344T>C | XP_005261735.1:p.Ile115Thr | |
| XM_005261681.1:c.344T>C | XP_005261738.1:p.Ile115Thr | |
| XM_011530271.1:c.635T>C | XP_011528573.1:p.Ile212Thr | |
| XM_011530272.1:c.740T>C | XP_011528574.1:p.Ile247Thr | |
| XM_011530273.1:c.740T>C | XP_011528575.1:p.Ile247Thr | |
| XM_011530274.1:c.398T>C | XP_011528576.1:p.Ile133Thr | |
| XM_011530275.1:c.344T>C | XP_011528577.1:p.Ile115Thr | |
| XM_011530271.2:c.635T>C | XP_011528573.1:p.Ile212Thr | |
| XM_011530272.2:c.740T>C | XP_011528574.1:p.Ile247Thr | |
| XM_011530273.2:c.740T>C | XP_011528575.1:p.Ile247Thr | |
| XM_011530274.2:c.398T>C | XP_011528576.1:p.Ile133Thr | |
| XM_024452260.1:c.635T>C | XP_024308028.1:p.Ile212Thr | |
| XR_001755261.2:n.786T>C | ||
| XR_001755262.2:n.786T>C | ||
| NM_018006.5:c.740T>C MANE Select | NP_060476.2:p.Ile247Thr | |
| NM_001282782.2:c.398T>C | NP_001269711.1:p.Ile133Thr | |
| NM_001282783.2:c.320T>C | NP_001269712.1:p.Ile107Thr | |
| NM_001282784.2:c.320T>C | NP_001269713.1:p.Ile107Thr | |
| NM_001282785.2:c.740T>C | NP_001269714.1:p.Ile247Thr | |
| NR_104240.2:n.736T>C | ||
| NR_104241.2:n.629T>C |