Linked Data
dbSNP Id:
rs966222835
gnomAD v2:
12-103311059-A-C
gnomAD v3:
12-102917281-A-C
gnomAD v4:
12-102917281-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917281A>C , CM000674.2:g.102917281A>C | GRCh38 |
| NC_000012.11:g.103311059A>C , CM000674.1:g.103311059A>C | GRCh37 |
| NC_000012.10:g.101835189A>C | NCBI36 |
| NG_008690.1:g.5322T>G | |
| NG_008690.2:g.46130T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546708.5:n.493-56T>G | ||
| ENST00000546844.1:c.-95-56T>G | ENSP00000446658.1:n.-95-56T>G | |
| ENST00000547319.1:n.217-56T>G | ||
| ENST00000551337.5:c.-95-56T>G | ENSP00000447620.1:n.-95-56T>G | |
| ENST00000553106.5:c.-151T>G | ENSP00000448059.1:n.-151T>G | |
| ENST00000635500.1:n.29-4383T>G | ||
| NM_000277.1:c.-151T>G | NP_000268.1:n.-151T>G | |
| NM_000277.2:c.-151T>G | NP_000268.1:n.-151T>G | |
| NM_001354304.1:c.-95-56T>G | NP_001341233.1:n.-95-56T>G | |
| NM_001354304.2:c.-95-56T>G | NP_001341233.1:n.-95-56T>G |