Linked Data
ClinVar Variation Id:
397593
dbSNP Id:
rs775710800
ExAC:
15:73023914 C / T
gnomAD v2:
15-73023914-C-T
gnomAD v4:
15-72731573-C-T
COSMIC:
COSM379063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72731573C>T , CM000677.2:g.72731573C>T | GRCh38 |
| NC_000015.9:g.73023914C>T , CM000677.1:g.73023914C>T | GRCh37 |
| NC_000015.8:g.70810967C>T | NCBI36 |
| NG_009416.2:g.50389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.883C>T MANE Select | ENSP00000268057.4:p.Arg295Ter | |
| ENST00000268057.8:c.883C>T | ENSP00000268057.4:p.Arg295Ter | |
| ENST00000395205.6:c.367C>T | ENSP00000378631.3:p.Arg123Ter | |
| ENST00000562084.5:c.*962C>T | ENSP00000454718.1:n.*962C>T | |
| ENST00000562219.1:n.318C>T | ||
| ENST00000566400.5:c.*773C>T | ENSP00000456759.1:n.*773C>T | |
| ENST00000567279.5:c.*737C>T | ENSP00000456664.1:n.*737C>T | |
| ENST00000569151.1:n.17C>T | ||
| ENST00000569338.5:c.805C>T | ENSP00000456758.1:p.Arg269Ter | |
| NM_001252678.1:c.367C>T | NP_001239607.1:p.Arg123Ter | |
| NM_033028.4:c.883C>T | NP_149017.2:p.Arg295Ter | |
| NR_045565.1:n.990C>T | ||
| NR_045566.1:n.1245C>T | ||
| XM_006720625.2:c.814C>T | XP_006720688.1:p.Arg272Ter | |
| XM_011521848.1:c.367C>T | XP_011520150.1:p.Arg123Ter | |
| XM_011521849.1:c.367C>T | XP_011520151.1:p.Arg123Ter | |
| XM_011521850.1:c.367C>T | XP_011520152.1:p.Arg123Ter | |
| XM_011521851.1:c.151C>T | XP_011520153.1:p.Arg51Ter | |
| NM_001320665.1:c.814C>T | NP_001307594.1:p.Arg272Ter | |
| XM_017022450.1:c.838C>T | XP_016877939.1:p.Arg280Ter | |
| XM_017022452.1:c.367C>T | XP_016877941.1:p.Arg123Ter | |
| XM_017022453.1:c.367C>T | XP_016877942.1:p.Arg123Ter | |
| XM_017022454.1:c.367C>T | XP_016877943.1:p.Arg123Ter | |
| NM_033028.5:c.883C>T MANE Select | NP_149017.2:p.Arg295Ter | |
| NM_001252678.2:c.367C>T | NP_001239607.1:p.Arg123Ter | |
| NM_001320665.2:c.814C>T | NP_001307594.1:p.Arg272Ter | |
| NR_045565.2:n.962C>T | ||
| NR_045566.2:n.1217C>T |