Linked Data
ClinVar Variation Id:
102459
dbSNP Id:
rs62517177
gnomAD v2:
12-103311055-G-A
gnomAD v3:
12-102917277-G-A
gnomAD v4:
12-102917277-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917277G>A , CM000674.2:g.102917277G>A | GRCh38 |
| NC_000012.11:g.103311055G>A , CM000674.1:g.103311055G>A | GRCh37 |
| NC_000012.10:g.101835185G>A | NCBI36 |
| NG_008690.1:g.5326C>T | |
| NG_008690.2:g.46134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546708.5:n.493-52C>T | ||
| ENST00000546844.1:c.-95-52C>T | ENSP00000446658.1:n.-95-52C>T | |
| ENST00000547319.1:n.217-52C>T | ||
| ENST00000551337.5:c.-95-52C>T | ENSP00000447620.1:n.-95-52C>T | |
| ENST00000553106.5:c.-147C>T | ENSP00000448059.1:n.-147C>T | |
| ENST00000635500.1:n.29-4379C>T | ||
| NM_000277.1:c.-147C>T | NP_000268.1:n.-147C>T | |
| NM_000277.2:c.-147C>T | NP_000268.1:n.-147C>T | |
| NM_001354304.1:c.-95-52C>T | NP_001341233.1:n.-95-52C>T | |
| NM_001354304.2:c.-95-52C>T | NP_001341233.1:n.-95-52C>T |