Linked Data
ClinVar Variation Id:
1395
dbSNP Id:
rs80044281
ExAC:
14:88883138 C / T
gnomAD v2:
14-88883138-C-T
gnomAD v3:
14-88416794-C-T
gnomAD v4:
14-88416794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88416794C>T , CM000676.2:g.88416794C>T | GRCh38 |
| NC_000014.8:g.88883138C>T , CM000676.1:g.88883138C>T | GRCh37 |
| NC_000014.7:g.87952891C>T | NCBI36 |
| NG_021183.1:g.36151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.322C>T MANE Select | ENSP00000377176.4:p.Arg108Ter | |
| ENST00000045347.11:c.322C>T | ENSP00000045347.7:p.Arg108Ter | |
| ENST00000356583.9:c.226C>T | ENSP00000348991.5:p.Arg76Ter | |
| ENST00000393545.8:c.322C>T | ENSP00000377176.4:p.Arg108Ter | |
| ENST00000553626.5:n.450C>T | ||
| ENST00000553885.5:c.280C>T | ENSP00000450606.1:p.Arg94Ter | |
| ENST00000553908.5:c.*197C>T | ENSP00000452546.1:n.*197C>T | |
| ENST00000554168.5:c.*279C>T | ENSP00000451663.1:n.*279C>T | |
| ENST00000555401.5:c.151C>T | ENSP00000452435.1:p.Arg51Ter | |
| ENST00000555515.5:c.*197C>T | ENSP00000450882.1:n.*197C>T | |
| ENST00000555534.5:c.*126C>T | ENSP00000450515.1:n.*126C>T | |
| ENST00000556553.5:c.226C>T | ENSP00000451128.1:p.Arg76Ter | |
| ENST00000556666.5:n.869C>T | ||
| ENST00000556870.5:c.*126C>T | ENSP00000452359.1:n.*126C>T | |
| ENST00000557248.5:c.*42C>T | ENSP00000451690.1:n.*42C>T | |
| NM_001040428.3:c.226C>T | NP_001035518.1:p.Arg76Ter | |
| NM_018418.4:c.322C>T | NP_060888.2:p.Arg108Ter | |
| XM_005267851.1:c.322C>T | XP_005267908.1:p.Arg108Ter | |
| XM_005267852.1:c.226C>T | XP_005267909.1:p.Arg76Ter | |
| XM_005267854.1:c.130C>T | XP_005267911.1:p.Arg44Ter | |
| XM_005267855.1:c.130C>T | XP_005267912.1:p.Arg44Ter | |
| XM_006720204.1:c.322C>T | XP_006720267.1:p.Arg108Ter | |
| XM_006720205.1:c.322C>T | XP_006720268.1:p.Arg108Ter | |
| XM_011536951.1:c.169C>T | XP_011535253.1:p.Arg57Ter | |
| XM_011536952.1:c.151C>T | XP_011535254.1:p.Arg51Ter | |
| XM_011536953.1:c.4C>T | XP_011535255.1:p.Arg2Ter | |
| XM_005267852.2:c.226C>T | XP_005267909.1:p.Arg76Ter | |
| XM_017021452.1:c.169C>T | XP_016876941.1:p.Arg57Ter | |
| XM_017021453.1:c.130C>T | XP_016876942.1:p.Arg44Ter | |
| XM_017021454.1:c.130C>T | XP_016876943.1:p.Arg44Ter | |
| XM_017021455.1:c.130C>T | XP_016876944.1:p.Arg44Ter | |
| XM_017021456.1:c.130C>T | XP_016876945.1:p.Arg44Ter | |
| XM_017021457.1:c.4C>T | XP_016876946.1:p.Arg2Ter | |
| XM_024449660.1:c.151C>T | XP_024305428.1:p.Arg51Ter | |
| XR_002957563.1:n.393C>T | ||
| NM_018418.5:c.322C>T MANE Select | NP_060888.2:p.Arg108Ter | |
| NM_001040428.4:c.226C>T | NP_001035518.1:p.Arg76Ter |