Linked Data
ClinVar Variation Id:
51030
ClinVar RCV Id:
RCV000669723
dbSNP Id:
rs397507565
gnomAD v4:
7-117479600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479600C>T , CM000669.2:g.117479600C>T | GRCh38 |
| NC_000007.13:g.117119654C>T , CM000669.1:g.117119654C>T | GRCh37 |
| NC_000007.12:g.116906890C>T | NCBI36 |
| NG_016465.4:g.18817C>T , LRG_663:g.18817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-285C>T | ENSP00000417012.1:n.-285C>T | |
| ENST00000673785.1:c.-406+13769C>T | ENSP00000501235.1:n.-406+13769C>T | |
| ENST00000446805.1:c.-285C>T | ENSP00000417012.1:n.-285C>T | |
| ENST00000546407.1:n.166+3792C>T | ||
| XM_011515751.1:c.143+255C>T | XP_011514053.1:n.143+255C>T | |
| XM_011515752.1:c.143+255C>T | XP_011514054.1:n.143+255C>T | |
| XM_011515753.1:c.-285C>T | XP_011514055.1:n.-285C>T | |
| XM_011515754.1:c.-613C>T | XP_011514056.1:n.-613C>T |