Linked Data
gnomAD v4:
12-57764290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764290C>T , CM000674.2:g.57764290C>T | GRCh38 |
| NC_000012.11:g.58158073C>T , CM000674.1:g.58158073C>T | GRCh37 |
| NC_000012.10:g.56444340C>T | NCBI36 |
| NG_007076.1:g.7904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1217+88G>A | ENSP00000518840.1:n.1217+88G>A | |
| ENST00000713545.1:c.*141+88G>A | ENSP00000518841.1:n.*141+88G>A | |
| ENST00000228606.9:c.1136+88G>A MANE Select | ENSP00000228606.4:n.1136+88G>A | |
| ENST00000228606.8:c.1136+88G>A | ENSP00000228606.4:n.1136+88G>A | |
| ENST00000546567.5:c.431+88G>A | ENSP00000449472.1:n.431+88G>A | |
| ENST00000547344.5:n.1275+88G>A | ||
| NM_000785.3:c.1136+88G>A | NP_000776.1:n.1136+88G>A | |
| NM_000785.4:c.1136+88G>A MANE Select | NP_000776.1:n.1136+88G>A |