Linked Data
ClinVar Variation Id:
55989
dbSNP Id:
rs386833471
ExAC:
7:107408354 C / A
gnomAD v2:
7-107408354-C-A
gnomAD v4:
7-107767909-C-A
PubMed:
PMID:22779076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107767909C>A , CM000669.2:g.107767909C>A | GRCh38 |
| NC_000007.13:g.107408354C>A , CM000669.1:g.107408354C>A | GRCh37 |
| NC_000007.12:g.107195590C>A | NCBI36 |
| NG_008046.1:g.40325G>T , LRG_683:g.40325G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.2063-1G>T MANE Select | ENSP00000345873.5:n.2063-1G>T | |
| ENST00000340010.9:c.2063-1G>T | ENSP00000345873.5:n.2063-1G>T | |
| ENST00000379083.7:c.*1620-1G>T | ENSP00000368375.3:n.*1620-1G>T | |
| NM_000111.2:c.2063-1G>T , LRG_683t1:c.2063-1G>T | NP_000102.1:n.2063-1G>T | |
| XM_011515867.1:c.2063-1G>T | XP_011514169.1:n.2063-1G>T | |
| NM_000111.3:c.2063-1G>T MANE Select | NP_000102.1:n.2063-1G>T |