Linked Data
dbSNP Id:
rs139377329
gnomAD v2:
9-22081299-A-T
gnomAD v3:
9-22081300-A-T
gnomAD v4:
9-22081300-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22081300A>T , CM000671.2:g.22081300A>T | GRCh38 |
| NC_000009.11:g.22081299A>T , CM000671.1:g.22081299A>T | GRCh37 |
| NC_000009.10:g.22071299A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2448+14947A>T | ||
| NR_047532.1:n.1076-11008A>T | ||
| NR_047534.1:n.645-15958A>T | ||
| NR_047535.1:n.780+24913A>T | ||
| NR_047536.1:n.645-31020A>T | ||
| NR_047537.1:n.780+24913A>T | ||
| NR_047538.1:n.644+32072A>T | ||
| NR_047543.1:n.780+24913A>T | ||
| NR_120536.1:n.644+32072A>T |