Linked Data
dbSNP Id:
rs3782130
gnomAD v3:
12-57768115-G-A
gnomAD v4:
12-57768115-G-A
MyVariant Identifiers:
chr12:g.57768115G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57768115G>A , CM000674.2:g.57768115G>A | GRCh38 |
| NC_000012.11:g.58161898G>A , CM000674.1:g.58161898G>A | GRCh37 |
| NC_000012.10:g.56448165G>A | NCBI36 |
| NG_007076.1:g.4079C>T | |
| NG_047060.1:g.9017C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.107+765C>T | ||
| ENST00000546609.1:c.107+765C>T |