Linked Data
dbSNP Id:
rs1569685919
gnomAD v3:
1-817441-G-C
gnomAD v4:
1-817441-G-C
MyVariant Identifiers:
chr1:g.752821G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.817441G>C , CM000663.2:g.817441G>C | GRCh38 |
| NC_000001.10:g.752821G>C , CM000663.1:g.752821G>C | GRCh37 |
| NC_000001.9:g.742684G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634337.2:n.127+10229C>G | ||
| ENST00000635509.2:n.100+10229C>G | ||
| ENST00000447500.4:n.272C>G | ||
| NR_103536.1:n.71G>C |