Linked Data
dbSNP Id:
rs757539890
ExAC:
10:124794047 A / T
gnomAD v2:
10-124794047-A-T
gnomAD v4:
10-123034531-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034531A>T , CM000672.2:g.123034531A>T | GRCh38 |
| NC_000010.10:g.124794047A>T , CM000672.1:g.124794047A>T | GRCh37 |
| NC_000010.9:g.124784037A>T | NCBI36 |
| NG_008003.1:g.30619A>T , LRG_451:g.30619A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.202+16A>T MANE Select | ENSP00000357873.3:n.202+16A>T | |
| ENST00000358776.6:c.202+16A>T | ENSP00000357873.3:n.202+16A>T | |
| ENST00000368869.8:c.-4+16A>T | ENSP00000357862.4:n.-4+16A>T | |
| ENST00000411816.2:n.219+16A>T | ||
| NM_001609.3:c.202+16A>T , LRG_451t1:c.202+16A>T | NP_001600.1:n.202+16A>T | |
| NM_001330174.1:c.-4+16A>T | NP_001317103.1:n.-4+16A>T | |
| NM_001330174.2:c.-4+16A>T | NP_001317103.1:n.-4+16A>T | |
| NM_001609.4:c.202+16A>T MANE Select | NP_001600.1:n.202+16A>T | |
| NM_001330174.3:c.-4+16A>T | NP_001317103.1:n.-4+16A>T |