Linked Data
dbSNP Id:
rs1011007467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461072G>A , CM000672.2:g.122461072G>A | GRCh38 |
| NC_000010.10:g.124220588G>A , CM000672.1:g.124220588G>A | GRCh37 |
| NC_000010.9:g.124210578G>A | NCBI36 |
| NG_011554.1:g.4548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648167.1:c.154+2363G>A | ENSP00000498033.1:n.154+2363G>A | |
| XR_946382.1:n.287C>T | ||
| XR_946383.1:n.287C>T | ||
| XR_946384.1:n.287C>T | ||
| XR_946385.1:n.287C>T | ||
| XR_946382.2:n.315C>T | ||
| XR_946383.2:n.315C>T | ||
| XR_946384.2:n.291C>T | ||
| XR_946385.2:n.315C>T |