Linked Data
ClinVar Variation Id:
56009
dbSNP Id:
rs386833490
gnomAD v2:
7-107427328-G-T
gnomAD v3:
7-107786883-G-T
gnomAD v4:
7-107786883-G-T
PubMed:
PMID:9554749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107786883G>T , CM000669.2:g.107786883G>T | GRCh38 |
| NC_000007.13:g.107427328G>T , CM000669.1:g.107427328G>T | GRCh37 |
| NC_000007.12:g.107214564G>T | NCBI36 |
| NG_008046.1:g.21351C>A , LRG_683:g.21351C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.915C>A MANE Select | ENSP00000345873.5:p.Tyr305Ter | |
| ENST00000340010.9:c.915C>A | ENSP00000345873.5:p.Tyr305Ter | |
| ENST00000379083.7:c.*706C>A | ENSP00000368375.3:n.*706C>A | |
| ENST00000468551.1:n.193C>A | ||
| NM_000111.2:c.915C>A , LRG_683t1:c.915C>A | NP_000102.1:p.Tyr305Ter | |
| XM_011515867.1:c.915C>A | XP_011514169.1:p.Tyr305Ter | |
| NM_000111.3:c.915C>A MANE Select | NP_000102.1:p.Tyr305Ter |