Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875819T>A , CM000681.2:g.48875819T>A | GRCh38 |
| NC_000019.9:g.49379076T>A , CM000681.1:g.49379076T>A | GRCh37 |
| NC_000019.8:g.54070888T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*726T>A | ENSP00000469239.2:n.*726T>A | |
| ENST00000704026.1:c.1586T>A | ENSP00000515636.1:p.Leu529Ter | |
| ENST00000704027.1:c.1919T>A | ENSP00000515637.1:p.Leu640Ter | |
| ENST00000200453.6:c.1871T>A MANE Select | ENSP00000200453.4:p.Leu624Ter | |
| ENST00000200453.5:c.1871T>A | ENSP00000200453.4:p.Leu624Ter | |
| ENST00000600406.1:c.1502T>A | ||
| NM_014330.3:c.1871T>A | NP_055145.3:p.Leu624Ter | |
| NM_014330.5:c.1871T>A MANE Select | NP_055145.3:p.Leu624Ter |