Linked Data
dbSNP Id:
rs9495170
gnomAD v2:
6-138954190-C-T
gnomAD v3:
6-138633053-C-T
gnomAD v4:
6-138633053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138633053C>T , CM000668.2:g.138633053C>T | GRCh38 |
| NC_000006.11:g.138954190C>T , CM000668.1:g.138954190C>T | GRCh37 |
| NC_000006.10:g.138995883C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468095.2:n.96+59423G>A | ||
| ENST00000491526.6:c.96+59423G>A | ||
| XM_011535976.1:c.-171+59423G>A | XP_011534278.1:n.-171+59423G>A | |
| XM_024446497.1:c.-420+5503G>A | XP_024302265.1:n.-420+5503G>A |