Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845373T>A , CM000685.2:g.21845373T>A | GRCh38 |
| NC_000023.10:g.21863491T>A , CM000685.1:g.21863491T>A | GRCh37 |
| NC_000023.9:g.21773412T>A | NCBI36 |
| NG_012797.1:g.10836T>A | |
| NG_012797.2:g.10836T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.427T>A MANE Select | ENSP00000368798.5:p.Leu143Ile | |
| ENST00000365779.2:c.427T>A | ENSP00000368796.1:p.Leu143Ile | |
| ENST00000379484.9:c.427T>A | ENSP00000368798.5:p.Leu143Ile | |
| ENST00000465888.1:n.526T>A | ||
| NM_015884.3:c.427T>A | NP_056968.1:p.Leu143Ile | |
| NM_015884.4:c.427T>A MANE Select | NP_056968.1:p.Leu143Ile |