Linked Data
dbSNP Id:
rs2138025400
gnomAD v4:
13-48303521-G-A
MyVariant Identifiers:
chr13:g.48877657G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303521G>A , CM000675.2:g.48303521G>A | GRCh38 |
| NC_000013.10:g.48877657G>A , CM000675.1:g.48877657G>A | GRCh37 |
| NC_000013.9:g.47775658G>A | NCBI36 |
| NG_009009.1:g.4775G>A , LRG_517:g.4775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.141C>T | ||
| NR_046414.2:n.182C>T |