Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.34026841A>C , CM000674.2:g.34026841A>C | GRCh38 |
| NC_000012.11:g.34179776A>C , CM000674.1:g.34179776A>C | GRCh37 |
| NC_000012.10:g.34071043A>C | NCBI36 |
| NG_016389.1:g.9561A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266483.7:c.1348A>C MANE Select | ENSP00000266483.2:p.Ile450Leu | |
| ENST00000266483.6:c.1348A>C | ENSP00000266483.2:p.Ile450Leu | |
| ENST00000538927.1:c.369+2682A>C | ENSP00000444084.1:n.369+2682A>C | |
| ENST00000541875.1:c.*1088A>C | ENSP00000443142.1:n.*1088A>C | |
| NM_032834.3:c.1348A>C | NP_116223.3:p.Ile450Leu | |
| XM_024449230.1:c.1168A>C | XP_024304998.1:p.Ile390Leu | |
| XM_024449231.1:c.1168A>C | XP_024304999.1:p.Ile390Leu | |
| NM_032834.4:c.1348A>C MANE Select | NP_116223.3:p.Ile450Leu |