Linked Data
dbSNP Id:
rs2097480723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122460994C>A , CM000672.2:g.122460994C>A | GRCh38 |
| NC_000010.10:g.124220510C>A , CM000672.1:g.124220510C>A | GRCh37 |
| NC_000010.9:g.124210500C>A | NCBI36 |
| NG_011554.1:g.4470C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2285C>A | ENSP00000498033.1:n.154+2285C>A | |
| XR_946382.1:n.365G>T | ||
| XR_946383.1:n.365G>T | ||
| XR_946384.1:n.365G>T | ||
| XR_946385.1:n.365G>T | ||
| XR_946382.2:n.393G>T | ||
| XR_946383.2:n.393G>T | ||
| XR_946384.2:n.369G>T | ||
| XR_946385.2:n.393G>T |