Linked Data
dbSNP Id:
rs340841
gnomAD v2:
1-214124470-C-T
gnomAD v3:
1-213951127-C-T
gnomAD v4:
1-213951127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.213951127C>T , CM000663.2:g.213951127C>T | GRCh38 |
| NC_000001.10:g.214124470C>T , CM000663.1:g.214124470C>T | GRCh37 |
| NC_000001.9:g.212191093C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_037850.2:n.299+14944G>A |