Linked Data
ClinVar Variation Id:
55967
ClinVar RCV Id:
RCV000049376
dbSNP Id:
rs386833449
gnomAD v4:
7-107779764-C-T
PubMed:
PMID:9718329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779764C>T , CM000669.2:g.107779764C>T | GRCh38 |
| NC_000007.13:g.107420209C>T , CM000669.1:g.107420209C>T | GRCh37 |
| NC_000007.12:g.107207445C>T | NCBI36 |
| NG_008046.1:g.28470G>A , LRG_683:g.28470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1312-1G>A MANE Select | ENSP00000345873.5:n.1312-1G>A | |
| ENST00000340010.9:c.1312-1G>A | ENSP00000345873.5:n.1312-1G>A | |
| ENST00000379083.7:c.*1103-1G>A | ENSP00000368375.3:n.*1103-1G>A | |
| NM_000111.2:c.1312-1G>A , LRG_683t1:c.1312-1G>A | NP_000102.1:n.1312-1G>A | |
| XM_011515867.1:c.1312-1G>A | XP_011514169.1:n.1312-1G>A | |
| NM_000111.3:c.1312-1G>A MANE Select | NP_000102.1:n.1312-1G>A |