Linked Data
ClinVar Variation Id:
2782569
ClinVar RCV Id:
RCV003664051
dbSNP Id:
rs1196852915
gnomAD v2:
12-58159779-A-C
gnomAD v4:
12-57765996-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765996A>C , CM000674.2:g.57765996A>C | GRCh38 |
| NC_000012.11:g.58159779A>C , CM000674.1:g.58159779A>C | GRCh37 |
| NC_000012.10:g.56446046A>C | NCBI36 |
| NG_007076.1:g.6198T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+11T>G | ||
| ENST00000713544.1:c.386+11T>G | ENSP00000518840.1:n.386+11T>G | |
| ENST00000713545.1:c.386+11T>G | ENSP00000518841.1:n.386+11T>G | |
| ENST00000228606.9:c.386+11T>G MANE Select | ENSP00000228606.4:n.386+11T>G | |
| ENST00000228606.8:c.386+11T>G | ENSP00000228606.4:n.386+11T>G | |
| ENST00000546496.1:n.214+11T>G | ||
| ENST00000546609.1:c.298+11T>G | ||
| ENST00000547344.5:n.440+11T>G | ||
| ENST00000552186.1:n.505+11T>G | ||
| NM_000785.3:c.386+11T>G | NP_000776.1:n.386+11T>G | |
| NM_000785.4:c.386+11T>G MANE Select | NP_000776.1:n.386+11T>G |