Linked Data
ClinVar Variation Id:
97016
ClinVar RCV Id:
RCV002228329
dbSNP Id:
rs431905514
gnomAD v4:
5-1416097-C-T
PubMed:
PMID:21112253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1416097C>T , CM000667.2:g.1416097C>T | GRCh38 |
| NC_000005.9:g.1416212C>T , CM000667.1:g.1416212C>T | GRCh37 |
| NC_000005.8:g.1469212C>T | NCBI36 |
| NG_015885.1:g.34332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1031+1G>A MANE Select | ENSP00000270349.9:n.1031+1G>A | |
| ENST00000270349.11:c.1031+1G>A | ENSP00000270349.9:n.1031+1G>A | |
| ENST00000511750.1:n.481+1G>A | ||
| NM_001044.4:c.1031+1G>A | NP_001035.1:n.1031+1G>A | |
| NM_001044.5:c.1031+1G>A MANE Select | NP_001035.1:n.1031+1G>A |