Linked Data
dbSNP Id:
rs1952047239
gnomAD v4:
13-48303603-T-G
MyVariant Identifiers:
chr13:g.48877739T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303603T>G , CM000675.2:g.48303603T>G | GRCh38 |
| NC_000013.10:g.48877739T>G , CM000675.1:g.48877739T>G | GRCh37 |
| NC_000013.9:g.47775740T>G | NCBI36 |
| NG_009009.1:g.4857T>G , LRG_517:g.4857T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.59A>C | ||
| NR_046414.2:n.100A>C |