Linked Data
ClinVar Variation Id:
359672
ClinVar RCV Id:
RCV000360141
dbSNP Id:
rs371205337
ExAC:
7:21857820 C / T
gnomAD v2:
7-21857820-C-T
gnomAD v3:
7-21818202-C-T
gnomAD v4:
7-21818202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21818202C>T , CM000669.2:g.21818202C>T | GRCh38 |
| NC_000007.13:g.21857820C>T , CM000669.1:g.21857820C>T | GRCh37 |
| NC_000007.12:g.21824345C>T | NCBI36 |
| NG_012886.2:g.279988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10569-15C>T MANE Select | ENSP00000475939.1:n.10569-15C>T | |
| ENST00000328843.10:c.10590-15C>T | ENSP00000330671.7:n.10590-15C>T | |
| ENST00000409508.7:c.10569-15C>T | ENSP00000475939.1:n.10569-15C>T | |
| ENST00000620169.4:c.10590-15C>T | ENSP00000481693.1:n.10590-15C>T | |
| NM_001277115.1:c.10569-15C>T | NP_001264044.1:n.10569-15C>T | |
| NM_001277115.2:c.10569-15C>T MANE Select | NP_001264044.1:n.10569-15C>T |