Linked Data
ClinVar Variation Id:
227774
ClinVar RCV Id:
RCV000217202
dbSNP Id:
rs876657554
gnomAD v2:
11-17573637-C-T
gnomAD v3:
11-17552090-C-T
gnomAD v4:
11-17552090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17552090C>T , CM000673.2:g.17552090C>T | GRCh38 |
| NC_000011.9:g.17573637C>T , CM000673.1:g.17573637C>T | GRCh37 |
| NC_000011.8:g.17530213C>T | NCBI36 |
| NG_033191.1:g.9718C>T | |
| NG_033191.2:g.9718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.328+15C>T | ENSP00000382323.2:n.328+15C>T | |
| ENST00000399397.6:c.292+15C>T MANE Select | ENSP00000382329.2:n.292+15C>T | |
| ENST00000399391.6:c.328+15C>T | ENSP00000382323.2:n.328+15C>T | |
| ENST00000399397.5:c.292+15C>T | ENSP00000382329.2:n.292+15C>T | |
| ENST00000428619.1:c.109+15C>T | ENSP00000399057.2:n.109+15C>T | |
| ENST00000498332.5:n.198+15C>T | ||
| NM_001277269.1:c.328+15C>T | NP_001264198.1:n.328+15C>T | |
| NM_001292063.1:c.292+15C>T | NP_001278992.1:n.292+15C>T | |
| NM_001277269.2:c.328+15C>T | NP_001264198.1:n.328+15C>T | |
| NM_001292063.2:c.292+15C>T MANE Select | NP_001278992.1:n.292+15C>T |