Linked Data
ClinVar Variation Id:
309579
ClinVar RCV Id:
RCV000268355
dbSNP Id:
rs886049627
gnomAD v2:
12-52914161-G-A
gnomAD v3:
12-52520377-G-A
gnomAD v4:
12-52520377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520377G>A , CM000674.2:g.52520377G>A | GRCh38 |
| NC_000012.11:g.52914161G>A , CM000674.1:g.52914161G>A | GRCh37 |
| NC_000012.10:g.51200428G>A | NCBI36 |
| NG_008297.1:g.5083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-81C>T MANE Select | ENSP00000252242.4:n.-81C>T | |
| ENST00000252242.8:c.-81C>T | ENSP00000252242.4:n.-81C>T | |
| ENST00000546577.1:c.-13+20C>T | ENSP00000449651.1:n.-13+20C>T | |
| ENST00000551275.1:c.-81C>T | ENSP00000448041.1:n.-81C>T | |
| ENST00000552629.5:n.18C>T | ||
| NM_000424.3:c.-81C>T | NP_000415.2:n.-81C>T | |
| NM_000424.4:c.-81C>T MANE Select | NP_000415.2:n.-81C>T |