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