Linked Data
dbSNP Id:
rs2138025700
gnomAD v4:
13-48303646-C-T
MyVariant Identifiers:
chr13:g.48877782C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303646C>T , CM000675.2:g.48303646C>T | GRCh38 |
| NC_000013.10:g.48877782C>T , CM000675.1:g.48877782C>T | GRCh37 |
| NC_000013.9:g.47775783C>T | NCBI36 |
| NG_009009.1:g.4900C>T , LRG_517:g.4900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.16G>A | ||
| NR_046414.2:n.57G>A |