Linked Data
gnomAD v4:
11-118312492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312492C>A , CM000673.2:g.118312492C>A | GRCh38 |
| NC_000011.9:g.118183207C>A , CM000673.1:g.118183207C>A | GRCh37 |
| NC_000011.8:g.117688417C>A | NCBI36 |
| NG_007383.1:g.12913C>A , LRG_38:g.12913C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-126C>A MANE Select | ENSP00000354566.4:n.104-126C>A | |
| ENST00000361763.8:c.104-126C>A | ENSP00000354566.4:n.104-126C>A | |
| ENST00000526146.5:n.524C>A | ||
| ENST00000528435.5:n.531C>A | ||
| ENST00000528600.1:c.86-126C>A | ENSP00000433975.1:n.86-126C>A | |
| ENST00000529713.5:n.210-126C>A | ||
| ENST00000531913.1:n.349C>A | ||
| NM_000733.3:c.104-126C>A , LRG_38t1:c.104-126C>A | NP_000724.1:n.104-126C>A | |
| NM_000733.4:c.104-126C>A MANE Select | NP_000724.1:n.104-126C>A |