Linked Data
ClinVar Variation Id:
2233123
ClinVar RCV Id:
RCV004094137
dbSNP Id:
rs371984197
ExAC:
6:10924740 A / T
gnomAD v2:
6-10924740-A-T
gnomAD v4:
6-10924507-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10924507A>T , CM000668.2:g.10924507A>T | GRCh38 |
| NC_000006.11:g.10924740A>T , CM000668.1:g.10924740A>T | GRCh37 |
| NC_000006.10:g.11032726A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.1084A>T MANE Select | ENSP00000283141.6:p.Ile362Leu | |
| ENST00000283141.10:c.1084A>T | ENSP00000283141.6:p.Ile362Leu | |
| ENST00000341041.8:c.*262A>T | ENSP00000340320.4:n.*262A>T | |
| ENST00000480294.1:c.*1046A>T | ENSP00000417929.1:n.*1046A>T | |
| ENST00000487561.2:c.567A>T | ENSP00000417870.1:n.567A>T | |
| ENST00000543878.5:c.1081A>T | ENSP00000440676.2:p.Ile361Leu | |
| NM_001040274.2:c.1084A>T | NP_001035364.2:p.Ile362Leu | |
| NM_001040274.3:c.1084A>T MANE Select | NP_001035364.2:p.Ile362Leu |