Linked Data
dbSNP Id:
rs11017221
gnomAD v2:
10-132168065-C-T
gnomAD v3:
10-130369801-C-T
gnomAD v4:
10-130369801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.130369801C>T , CM000672.2:g.130369801C>T | GRCh38 |
| NC_000010.10:g.132168065C>T , CM000672.1:g.132168065C>T | GRCh37 |
| NC_000010.9:g.132058055C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011540452.1:c.175-61660C>T | XP_011538754.1:n.175-61660C>T | |
| XM_011540453.1:c.333+117736C>T | XP_011538755.1:n.333+117736C>T | |
| XR_946469.1:n.7229-61660C>T | ||
| XR_946471.1:n.7791+32878C>T | ||
| XR_946472.1:n.7557+32878C>T | ||
| XR_946473.1:n.7398+32878C>T | ||
| XR_946474.1:n.7229-61660C>T | ||
| XR_946477.1:n.7229-61660C>T | ||
| XR_001747664.1:n.1386+32878C>T | ||
| XR_001747666.1:n.1386+32878C>T |