Canonical Allele Identifier:
CA29879453
Gene:
Linked Data
dbSNP Id:
rs12122100
gnomAD v3:
1-147037378-T-C
gnomAD v4:
1-147037378-T-C
MyVariant Identifiers:
chr1:g.147037378T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147037378T>C , CM000663.2:g.147037378T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444082.2:n.988+4018A>G | ||
| ENST00000444082.1:n.2902+4018A>G | ||
| NR_024442.2:n.90+5572A>G |