Linked Data
gnomAD v4:
19-48875915-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875915C>A , CM000681.2:g.48875915C>A | GRCh38 |
| NC_000019.9:g.49379172C>A , CM000681.1:g.49379172C>A | GRCh37 |
| NC_000019.8:g.54070984C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*822C>A | ENSP00000469239.2:n.*822C>A | |
| ENST00000704026.1:c.1682C>A | ENSP00000515636.1:p.Pro561His | |
| ENST00000704027.1:c.2015C>A | ENSP00000515637.1:p.Pro672His | |
| ENST00000200453.6:c.1967C>A MANE Select | ENSP00000200453.4:p.Pro656His | |
| ENST00000200453.5:c.1967C>A | ENSP00000200453.4:p.Pro656His | |
| ENST00000600406.1:c.1598C>A | ||
| NM_014330.3:c.1967C>A | NP_055145.3:p.Pro656His | |
| NM_014330.5:c.1967C>A MANE Select | NP_055145.3:p.Pro656His |