Linked Data
dbSNP Id:
rs1189093814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122460976T>A , CM000672.2:g.122460976T>A | GRCh38 |
| NC_000010.10:g.124220492T>A , CM000672.1:g.124220492T>A | GRCh37 |
| NC_000010.9:g.124210482T>A | NCBI36 |
| NG_011554.1:g.4452T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2267T>A | ENSP00000498033.1:n.154+2267T>A | |
| XR_946382.1:n.383A>T | ||
| XR_946383.1:n.383A>T | ||
| XR_946384.1:n.383A>T | ||
| XR_946385.1:n.383A>T | ||
| XR_946382.2:n.411A>T | ||
| XR_946383.2:n.411A>T | ||
| XR_946384.2:n.387A>T | ||
| XR_946385.2:n.411A>T |