Linked Data
dbSNP Id:
rs1480105715
gnomAD v2:
10-124220458-G-A
gnomAD v3:
10-122460942-G-A
gnomAD v4:
10-122460942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122460942G>A , CM000672.2:g.122460942G>A | GRCh38 |
| NC_000010.10:g.124220458G>A , CM000672.1:g.124220458G>A | GRCh37 |
| NC_000010.9:g.124210448G>A | NCBI36 |
| NG_011554.1:g.4418G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2233G>A | ENSP00000498033.1:n.154+2233G>A | |
| XR_946382.1:n.410+7C>T | ||
| XR_946383.1:n.410+7C>T | ||
| XR_946384.1:n.410+7C>T | ||
| XR_946385.1:n.410+7C>T | ||
| XR_946382.2:n.438+7C>T | ||
| XR_946383.2:n.438+7C>T | ||
| XR_946384.2:n.414+7C>T | ||
| XR_946385.2:n.438+7C>T |