Linked Data
ClinVar Variation Id:
127251
ClinVar RCV Id:
RCV000115048
dbSNP Id:
rs199475831
gnomAD v3:
19-54923366-C-T
gnomAD v4:
19-54923366-C-T
MyVariant Identifiers:
chr19:g.54923366C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54923366C>T , CM000681.2:g.54923366C>T | GRCh38 |
| NC_000019.8:g.60126546C>T | NCBI36 |
| NG_008056.1:g.29140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011527530.1:c.682+13301C>T | XP_011525832.1:n.682+13301C>T | |
| XM_011527530.3:c.682+13301C>T | XP_011525832.1:n.682+13301C>T |