Linked Data
dbSNP Id:
rs200401772
ExAC:
11:62623016 G / C
gnomAD v2:
11-62623016-G-C
gnomAD v3:
11-62855544-G-C
gnomAD v4:
11-62855544-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62855544G>C , CM000673.2:g.62855544G>C | GRCh38 |
| NC_000011.9:g.62623016G>C , CM000673.1:g.62623016G>C | GRCh37 |
| NC_000011.8:g.62379592G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003098.1:n.25-78C>G | ||
| NR_003098.2:n.22-78C>G | ||
| NR_152575.1:n.342C>G | ||
| NR_152576.1:n.342C>G | ||
| NR_152577.1:n.22-78C>G | ||
| NR_152578.1:n.21+321C>G | ||
| NR_152579.1:n.22-78C>G | ||
| NR_152580.1:n.22-78C>G | ||
| NR_152581.1:n.22-78C>G | ||
| NR_152582.1:n.21+321C>G | ||
| NR_152583.1:n.22-78C>G | ||
| NR_152584.1:n.342C>G | ||
| NR_152585.1:n.342C>G |