Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875818T>G , CM000681.2:g.48875818T>G | GRCh38 |
| NC_000019.9:g.49379075T>G , CM000681.1:g.49379075T>G | GRCh37 |
| NC_000019.8:g.54070887T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*725T>G | ENSP00000469239.2:n.*725T>G | |
| ENST00000704026.1:c.1585T>G | ENSP00000515636.1:p.Leu529Val | |
| ENST00000704027.1:c.1918T>G | ENSP00000515637.1:p.Leu640Val | |
| ENST00000200453.6:c.1870T>G MANE Select | ENSP00000200453.4:p.Leu624Val | |
| ENST00000200453.5:c.1870T>G | ENSP00000200453.4:p.Leu624Val | |
| ENST00000600406.1:c.1501T>G | ||
| NM_014330.3:c.1870T>G | NP_055145.3:p.Leu624Val | |
| NM_014330.5:c.1870T>G MANE Select | NP_055145.3:p.Leu624Val |