Linked Data
ClinVar Variation Id:
56004
dbSNP Id:
rs386833485
ExAC:
7:107430134 C / A
gnomAD v2:
7-107430134-C-A
gnomAD v3:
7-107789689-C-A
gnomAD v4:
7-107789689-C-A
PubMed:
PMID:9718329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107789689C>A , CM000669.2:g.107789689C>A | GRCh38 |
| NC_000007.13:g.107430134C>A , CM000669.1:g.107430134C>A | GRCh37 |
| NC_000007.12:g.107217370C>A | NCBI36 |
| NG_008046.1:g.18545G>T , LRG_683:g.18545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.571-1G>T MANE Select | ENSP00000345873.5:n.571-1G>T | |
| ENST00000340010.9:c.571-1G>T | ENSP00000345873.5:n.571-1G>T | |
| ENST00000379083.7:c.*362-1G>T | ENSP00000368375.3:n.*362-1G>T | |
| NM_000111.2:c.571-1G>T , LRG_683t1:c.571-1G>T | NP_000102.1:n.571-1G>T | |
| XM_011515867.1:c.571-1G>T | XP_011514169.1:n.571-1G>T | |
| NM_000111.3:c.571-1G>T MANE Select | NP_000102.1:n.571-1G>T |