Linked Data
ClinVar Variation Id:
55966
ClinVar RCV Id:
RCV000049375
dbSNP Id:
rs386833448
gnomAD v3:
7-107782802-G-A
gnomAD v4:
7-107782802-G-A
PubMed:
PMID:11524734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107782802G>A , CM000669.2:g.107782802G>A | GRCh38 |
| NC_000007.13:g.107423247G>A , CM000669.1:g.107423247G>A | GRCh37 |
| NC_000007.12:g.107210483G>A | NCBI36 |
| NG_008046.1:g.25432C>T , LRG_683:g.25432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1306C>T MANE Select | ENSP00000345873.5:p.Gln436Ter | |
| ENST00000340010.9:c.1306C>T | ENSP00000345873.5:p.Gln436Ter | |
| ENST00000379083.7:c.*1097C>T | ENSP00000368375.3:n.*1097C>T | |
| NM_000111.2:c.1306C>T , LRG_683t1:c.1306C>T | NP_000102.1:p.Gln436Ter | |
| XM_011515867.1:c.1306C>T | XP_011514169.1:p.Gln436Ter | |
| NM_000111.3:c.1306C>T MANE Select | NP_000102.1:p.Gln436Ter |