Linked Data
dbSNP Id:
rs2070603618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578925G>A , CM000684.2:g.50578925G>A | GRCh38 |
| NC_000022.10:g.51017354G>A , CM000684.1:g.51017354G>A | GRCh37 |
| NC_000022.9:g.49364220G>A | NCBI36 |
| NG_012643.1:g.4743C>T | |
| NG_029213.1:g.9075C>T , LRG_855:g.9075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452668.1:n.319+111C>T | ||
| ENST00000453634.5:c.328+111C>T | ENSP00000457031.1:n.328+111C>T | |
| ENST00000492556.5:n.2189+111C>T | ||
| NR_027928.2:n.1551+111C>T |