Linked Data
ClinVar Variation Id:
37305
dbSNP Id:
rs387907314
ExAC:
2:112779132 C / T
gnomAD v2:
2-112779132-C-T
gnomAD v4:
2-112021555-C-T
PubMed:
PMID:22180149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112021555C>T , CM000664.2:g.112021555C>T | GRCh38 |
| NC_000002.11:g.112779132C>T , CM000664.1:g.112779132C>T | GRCh37 |
| NC_000002.10:g.112495603C>T | NCBI36 |
| NG_011607.1:g.127942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2323C>T MANE Select | ENSP00000295408.4:p.Arg775Ter | |
| ENST00000295408.8:c.2323C>T | ENSP00000295408.4:p.Arg775Ter | |
| ENST00000409780.5:c.1795C>T | ENSP00000387277.1:p.Arg599Ter | |
| ENST00000421804.6:c.2323C>T | ENSP00000389152.2:p.Arg775Ter | |
| ENST00000439966.5:c.*1796C>T | ENSP00000402129.1:n.*1796C>T | |
| ENST00000449344.2:c.295C>T | ENSP00000412660.2:p.Arg99Ter | |
| ENST00000616902.4:c.1279C>T | ENSP00000482824.1:p.Arg427Ter | |
| NM_006343.2:c.2323C>T | NP_006334.2:p.Arg775Ter | |
| XM_005263565.3:c.2323C>T | XP_005263622.1:p.Arg775Ter | |
| XM_011510490.1:c.2134C>T | XP_011508792.1:p.Arg712Ter | |
| XM_011510491.1:c.1108C>T | XP_011508793.1:p.Arg370Ter | |
| XM_005263565.4:c.2323C>T | XP_005263622.1:p.Arg775Ter | |
| XM_011510490.3:c.2134C>T | XP_011508792.1:p.Arg712Ter | |
| XM_017003164.1:c.2134C>T | XP_016858653.1:p.Arg712Ter | |
| XM_017003165.2:c.1108C>T | XP_016858654.1:p.Arg370Ter | |
| NM_006343.3:c.2323C>T MANE Select | NP_006334.2:p.Arg775Ter |