Linked Data
dbSNP Id:
rs2097480800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461080A>G , CM000672.2:g.122461080A>G | GRCh38 |
| NC_000010.10:g.124220596A>G , CM000672.1:g.124220596A>G | GRCh37 |
| NC_000010.9:g.124210586A>G | NCBI36 |
| NG_011554.1:g.4556A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648167.1:c.154+2371A>G | ENSP00000498033.1:n.154+2371A>G | |
| XR_946382.1:n.279T>C | ||
| XR_946383.1:n.279T>C | ||
| XR_946384.1:n.279T>C | ||
| XR_946385.1:n.279T>C | ||
| XR_946382.2:n.307T>C | ||
| XR_946383.2:n.307T>C | ||
| XR_946384.2:n.283T>C | ||
| XR_946385.2:n.307T>C |