Linked Data
dbSNP Id:
rs1754448345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145659245C>A , CM000667.2:g.145659245C>A | GRCh38 |
| NC_000005.9:g.145038808C>A , CM000667.1:g.145038808C>A | GRCh37 |
| NC_000005.8:g.145019001C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510259.5:n.70+105686G>T | ||
| XR_944308.1:n.662+105686G>T | ||
| XM_017009130.1:c.*6111G>T | XP_016864619.1:n.*6111G>T | |
| XM_017009133.1:c.*6143G>T | XP_016864622.1:n.*6143G>T | |
| XR_001742025.1:n.913+44730G>T |