Linked Data
gnomAD v4:
19-47004289-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004289C>A , CM000681.2:g.47004289C>A | GRCh38 |
| NC_000019.9:g.47507546C>A , CM000681.1:g.47507546C>A | GRCh37 |
| NC_000019.8:g.52199386C>A | NCBI36 |
| NG_047014.1:g.90723C>A | |
| NG_047014.2:g.148293C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8101C>A | ENSP00000385720.2:n.8101C>A | |
| ENST00000672722.1:c.*3601C>A MANE Select | ENSP00000500409.1:n.*3601C>A | |
| ENST00000404338.7:c.8101C>A | ENSP00000385720.2:n.8101C>A | |
| ENST00000614079.1:c.7678C>A | ENSP00000483730.1:n.7678C>A | |
| NM_004491.4:c.8101C>A | NP_004482.4:n.8101C>A | |
| NM_004491.5:c.*3601C>A MANE Select | NP_004482.4:n.*3601C>A |