Linked Data
ClinVar Variation Id:
1564340
dbSNP Id:
rs373607899
ExAC:
12:58159776 C / A
gnomAD v2:
12-58159776-C-A
gnomAD v3:
12-57765993-C-A
gnomAD v4:
12-57765993-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765993C>A , CM000674.2:g.57765993C>A | GRCh38 |
| NC_000012.11:g.58159776C>A , CM000674.1:g.58159776C>A | GRCh37 |
| NC_000012.10:g.56446043C>A | NCBI36 |
| NG_007076.1:g.6201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+14G>T | ||
| ENST00000713544.1:c.386+14G>T | ENSP00000518840.1:n.386+14G>T | |
| ENST00000713545.1:c.386+14G>T | ENSP00000518841.1:n.386+14G>T | |
| ENST00000228606.9:c.386+14G>T MANE Select | ENSP00000228606.4:n.386+14G>T | |
| ENST00000228606.8:c.386+14G>T | ENSP00000228606.4:n.386+14G>T | |
| ENST00000546496.1:n.214+14G>T | ||
| ENST00000546609.1:c.298+14G>T | ||
| ENST00000547344.5:n.440+14G>T | ||
| ENST00000552186.1:n.505+14G>T | ||
| NM_000785.3:c.386+14G>T | NP_000776.1:n.386+14G>T | |
| NM_000785.4:c.386+14G>T MANE Select | NP_000776.1:n.386+14G>T |