Linked Data
ClinVar Variation Id:
2830095
ClinVar RCV Id:
RCV003651157
dbSNP Id:
rs773063717
ExAC:
7:21745168 G / T
gnomAD v2:
7-21745168-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21705550G>T , CM000669.2:g.21705550G>T | GRCh38 |
| NC_000007.13:g.21745168G>T , CM000669.1:g.21745168G>T | GRCh37 |
| NC_000007.12:g.21711693G>T | NCBI36 |
| NG_012886.2:g.167336G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.6546+13G>T MANE Select | ENSP00000475939.1:n.6546+13G>T | |
| ENST00000328843.10:c.6567+13G>T | ENSP00000330671.7:n.6567+13G>T | |
| ENST00000409508.7:c.6546+13G>T | ENSP00000475939.1:n.6546+13G>T | |
| ENST00000620169.4:c.6567+13G>T | ENSP00000481693.1:n.6567+13G>T | |
| NM_001277115.1:c.6546+13G>T | NP_001264044.1:n.6546+13G>T | |
| NM_001277115.2:c.6546+13G>T MANE Select | NP_001264044.1:n.6546+13G>T |