Linked Data
ClinVar Variation Id:
1126164
ClinVar RCV Id:
RCV001458094
dbSNP Id:
rs1216938218
gnomAD v3:
22-46352290-T-C
gnomAD v4:
22-46352290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46352290T>C , CM000684.2:g.46352290T>C | GRCh38 |
| NC_000022.10:g.46748187T>C , CM000684.1:g.46748187T>C | GRCh37 |
| NC_000022.9:g.45126851T>C | NCBI36 |
| NG_012173.1:g.21890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465378.6:n.780T>C | ||
| ENST00000642923.1:c.627T>C | ENSP00000494255.1:p.Phe209= | |
| ENST00000643137.1:c.627T>C | ENSP00000495331.1:p.Phe209= | |
| ENST00000644006.1:c.*176T>C | ENSP00000493778.1:n.*176T>C | |
| ENST00000645026.1:n.783T>C | ||
| ENST00000645190.1:c.732T>C MANE Select | ENSP00000496496.1:p.Phe244= | |
| ENST00000647301.1:c.*176T>C | ENSP00000496641.1:n.*176T>C | |
| ENST00000290846.8:c.732T>C | ENSP00000290846.4:p.Phe244= | |
| ENST00000381019.3:c.732T>C | ENSP00000370407.3:p.Phe244= | |
| ENST00000381021.7:c.*325T>C | ENSP00000370409.3:n.*325T>C | |
| ENST00000441818.5:c.*266T>C | ENSP00000393014.1:n.*266T>C | |
| ENST00000453630.5:c.*270T>C | ENSP00000398488.1:n.*270T>C | |
| ENST00000456595.5:c.*266T>C | ENSP00000413880.1:n.*266T>C | |
| ENST00000457572.5:c.*176T>C | ENSP00000407700.1:n.*176T>C | |
| ENST00000463785.1:n.200T>C | ||
| ENST00000479648.1:n.552T>C | ||
| ENST00000485175.5:n.692T>C | ||
| ENST00000486620.5:n.774T>C | ||
| NM_001282782.1:c.390T>C | NP_001269711.1:p.Phe130= | |
| NM_001282783.1:c.312T>C | NP_001269712.1:p.Phe104= | |
| NM_001282784.1:c.312T>C | NP_001269713.1:p.Phe104= | |
| NM_001282785.1:c.732T>C | NP_001269714.1:p.Phe244= | |
| NM_018006.4:c.732T>C | NP_060476.2:p.Phe244= | |
| NR_104240.1:n.1041T>C | ||
| NR_104241.1:n.934T>C | ||
| XM_005261678.1:c.336T>C | XP_005261735.1:p.Phe112= | |
| XM_005261681.1:c.336T>C | XP_005261738.1:p.Phe112= | |
| XM_011530271.1:c.627T>C | XP_011528573.1:p.Phe209= | |
| XM_011530272.1:c.732T>C | XP_011528574.1:p.Phe244= | |
| XM_011530273.1:c.732T>C | XP_011528575.1:p.Phe244= | |
| XM_011530274.1:c.390T>C | XP_011528576.1:p.Phe130= | |
| XM_011530275.1:c.336T>C | XP_011528577.1:p.Phe112= | |
| XM_011530271.2:c.627T>C | XP_011528573.1:p.Phe209= | |
| XM_011530272.2:c.732T>C | XP_011528574.1:p.Phe244= | |
| XM_011530273.2:c.732T>C | XP_011528575.1:p.Phe244= | |
| XM_011530274.2:c.390T>C | XP_011528576.1:p.Phe130= | |
| XM_024452260.1:c.627T>C | XP_024308028.1:p.Phe209= | |
| XR_001755261.2:n.778T>C | ||
| XR_001755262.2:n.778T>C | ||
| NM_018006.5:c.732T>C MANE Select | NP_060476.2:p.Phe244= | |
| NM_001282782.2:c.390T>C | NP_001269711.1:p.Phe130= | |
| NM_001282783.2:c.312T>C | NP_001269712.1:p.Phe104= | |
| NM_001282784.2:c.312T>C | NP_001269713.1:p.Phe104= | |
| NM_001282785.2:c.732T>C | NP_001269714.1:p.Phe244= | |
| NR_104240.2:n.728T>C | ||
| NR_104241.2:n.621T>C |