Linked Data
MyVariant Identifiers:
chr19:g.49563978A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060721A>T , CM000681.2:g.49060721A>T | GRCh38 |
| NC_000019.9:g.49563978A>T , CM000681.1:g.49563978A>T | GRCh37 |
| NC_000019.8:g.54255790A>T | NCBI36 |
| NG_016289.1:g.8147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+1034T>A | ENSP00000470689.1:n.243+1034T>A | |
| XM_011527575.1:c.32T>A | XP_011525877.1:p.Leu11Gln | |
| XR_001753693.1:n.879+443T>A |