Linked Data
dbSNP Id:
rs763051525
ExAC:
19:49379171 C / A
gnomAD v2:
19-49379171-C-A
gnomAD v4:
19-48875914-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875914C>A , CM000681.2:g.48875914C>A | GRCh38 |
| NC_000019.9:g.49379171C>A , CM000681.1:g.49379171C>A | GRCh37 |
| NC_000019.8:g.54070983C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*821C>A | ENSP00000469239.2:n.*821C>A | |
| ENST00000704026.1:c.1681C>A | ENSP00000515636.1:p.Pro561Thr | |
| ENST00000704027.1:c.2014C>A | ENSP00000515637.1:p.Pro672Thr | |
| ENST00000200453.6:c.1966C>A MANE Select | ENSP00000200453.4:p.Pro656Thr | |
| ENST00000200453.5:c.1966C>A | ENSP00000200453.4:p.Pro656Thr | |
| ENST00000600406.1:c.1597C>A | ||
| NM_014330.3:c.1966C>A | NP_055145.3:p.Pro656Thr | |
| NM_014330.5:c.1966C>A MANE Select | NP_055145.3:p.Pro656Thr |