Linked Data
ClinVar Variation Id:
1646762
ClinVar RCV Id:
RCV002151298
dbSNP Id:
rs747135985
ExAC:
12:58159774 G / A
gnomAD v2:
12-58159774-G-A
gnomAD v4:
12-57765991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765991G>A , CM000674.2:g.57765991G>A | GRCh38 |
| NC_000012.11:g.58159774G>A , CM000674.1:g.58159774G>A | GRCh37 |
| NC_000012.10:g.56446041G>A | NCBI36 |
| NG_007076.1:g.6203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+16C>T | ||
| ENST00000713544.1:c.386+16C>T | ENSP00000518840.1:n.386+16C>T | |
| ENST00000713545.1:c.386+16C>T | ENSP00000518841.1:n.386+16C>T | |
| ENST00000228606.9:c.386+16C>T MANE Select | ENSP00000228606.4:n.386+16C>T | |
| ENST00000228606.8:c.386+16C>T | ENSP00000228606.4:n.386+16C>T | |
| ENST00000546496.1:n.214+16C>T | ||
| ENST00000546609.1:c.298+16C>T | ||
| ENST00000547344.5:n.440+16C>T | ||
| ENST00000552186.1:n.505+16C>T | ||
| NM_000785.3:c.386+16C>T | NP_000776.1:n.386+16C>T | |
| NM_000785.4:c.386+16C>T MANE Select | NP_000776.1:n.386+16C>T |