Linked Data
gnomAD v4:
12-57766002-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766002C>G , CM000674.2:g.57766002C>G | GRCh38 |
| NC_000012.11:g.58159785C>G , CM000674.1:g.58159785C>G | GRCh37 |
| NC_000012.10:g.56446052C>G | NCBI36 |
| NG_007076.1:g.6192G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+5G>C | ||
| ENST00000713544.1:c.386+5G>C | ENSP00000518840.1:n.386+5G>C | |
| ENST00000713545.1:c.386+5G>C | ENSP00000518841.1:n.386+5G>C | |
| ENST00000228606.9:c.386+5G>C MANE Select | ENSP00000228606.4:n.386+5G>C | |
| ENST00000228606.8:c.386+5G>C | ENSP00000228606.4:n.386+5G>C | |
| ENST00000546496.1:n.214+5G>C | ||
| ENST00000546609.1:c.298+5G>C | ||
| ENST00000547344.5:n.440+5G>C | ||
| ENST00000552186.1:n.505+5G>C | ||
| NM_000785.3:c.386+5G>C | NP_000776.1:n.386+5G>C | |
| NM_000785.4:c.386+5G>C MANE Select | NP_000776.1:n.386+5G>C |