Linked Data
dbSNP Id:
rs1722205430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722525G>A , CM000681.2:g.6722525G>A | GRCh38 |
| NC_000019.9:g.6722536G>A , CM000681.1:g.6722536G>A | GRCh37 |
| NC_000019.8:g.6673536G>A | NCBI36 |
| NG_009557.1:g.3127C>T , LRG_27:g.3127C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000600744.1:c.-50+916C>T | ENSP00000472044.1:n.-50+916C>T |