Linked Data
dbSNP Id:
rs1490072500
gnomAD v2:
6-30040765-A-T
gnomAD v3:
6-30072988-A-T
gnomAD v4:
6-30072988-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30072988A>T , CM000668.2:g.30072988A>T | GRCh38 |
| NC_000006.11:g.30040765A>T , CM000668.1:g.30040765A>T | GRCh37 |
| NC_000006.10:g.30148744A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244360.8:c.478+169T>A MANE Select | ENSP00000244360.7:n.478+169T>A | |
| ENST00000244360.7:c.478+169T>A | ENSP00000244360.7:n.478+169T>A | |
| ENST00000376751.8:c.478+169T>A | ENSP00000365942.4:n.478+169T>A | |
| ENST00000244360.6:c.682+169T>A | ENSP00000244360.6:n.682+169T>A | |
| ENST00000376751.7:c.682+169T>A | ENSP00000365942.3:n.682+169T>A | |
| NM_025236.3:c.682+169T>A | NP_079512.2:n.682+169T>A | |
| NM_170769.2:c.682+169T>A | NP_739575.2:n.682+169T>A | |
| XM_017011325.1:c.223+169T>A | XP_016866814.1:n.223+169T>A | |
| XM_017011326.1:c.682+169T>A | XP_016866815.1:n.682+169T>A | |
| NM_025236.4:c.478+169T>A MANE Select | NP_079512.3:n.478+169T>A | |
| NM_170769.3:c.478+169T>A | NP_739575.3:n.478+169T>A |