Linked Data
dbSNP Id:
rs1237748655
gnomAD v2:
17-75315868-C-T
gnomAD v3:
17-77319786-C-T
gnomAD v4:
17-77319786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77319786C>T , CM000679.2:g.77319786C>T | GRCh38 |
| NC_000017.10:g.75315868C>T , CM000679.1:g.75315868C>T | GRCh37 |
| NC_000017.9:g.72827463C>T | NCBI36 |
| NG_011683.1:g.43377C>T | |
| NG_011683.2:g.43377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.-541C>T MANE Plus Clinical | ENSP00000329161.8:n.-541C>T | |
| ENST00000427177.6:c.76+12589C>T MANE Select | ENSP00000391249.1:n.76+12589C>T | |
| ENST00000329047.12:c.-541C>T | ENSP00000329161.8:n.-541C>T | |
| ENST00000427177.5:c.76+12589C>T | ENSP00000391249.1:n.76+12589C>T | |
| ENST00000431235.6:c.-417+12589C>T | ENSP00000406987.2:n.-417+12589C>T | |
| ENST00000449803.6:c.-417+12589C>T | ENSP00000400181.2:n.-417+12589C>T | |
| ENST00000587237.1:n.406+12589C>T | ||
| ENST00000588575.1:c.19C>T | ENSP00000468090.1:p.Arg7Cys | |
| ENST00000589070.1:c.31+38980C>T | ENSP00000465332.1:n.31+38980C>T | |
| ENST00000590294.5:c.-541C>T | ENSP00000465464.1:n.-541C>T | |
| ENST00000590576.5:c.*76+12589C>T | ENSP00000465600.1:n.*76+12589C>T | |
| ENST00000590595.1:c.19C>T | ENSP00000465026.1:p.Arg7Cys | |
| ENST00000591198.5:c.19+38232C>T | ENSP00000468406.1:n.19+38232C>T | |
| ENST00000591833.5:c.*71+12589C>T | ENSP00000466684.1:n.*71+12589C>T | |
| NM_001113491.1:c.76+12589C>T | NP_001106963.1:n.76+12589C>T | |
| NM_001113492.1:c.-417+12589C>T | NP_001106964.1:n.-417+12589C>T | |
| NM_001293695.1:c.19+38232C>T | NP_001280624.1:n.19+38232C>T | |
| NM_006640.4:c.-541C>T | NP_006631.2:n.-541C>T | |
| XM_006721643.2:c.-417+12589C>T | XP_006721706.1:n.-417+12589C>T | |
| XM_011524204.1:c.169+12589C>T | XP_011522506.1:n.169+12589C>T | |
| XM_011524205.1:c.166+12589C>T | XP_011522507.1:n.166+12589C>T | |
| NM_001113491.2:c.76+12589C>T MANE Select | NP_001106963.1:n.76+12589C>T | |
| NM_001293695.2:c.19+38232C>T | NP_001280624.1:n.19+38232C>T | |
| NM_001113492.2:c.-417+12589C>T | NP_001106964.1:n.-417+12589C>T | |
| NM_006640.5:c.-541C>T MANE Plus Clinical | NP_006631.2:n.-541C>T |