Linked Data
ClinVar Variation Id:
446286
dbSNP Id:
rs200944917
ExAC:
17:18208522 G / A
gnomAD v2:
17-18208522-G-A
gnomAD v3:
17-18305208-G-A
gnomAD v4:
17-18305208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18305208G>A , CM000679.2:g.18305208G>A | GRCh38 |
| NC_000017.10:g.18208522G>A , CM000679.1:g.18208522G>A | GRCh37 |
| NC_000017.9:g.18149247G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321105.10:c.403C>T MANE Select | ENSP00000321636.5:p.Arg135Ter | |
| ENST00000321105.9:c.403C>T | ENSP00000321636.5:p.Arg135Ter | |
| ENST00000461127.5:c.*21C>T | ENSP00000464338.1:n.*21C>T | |
| ENST00000469739.6:n.282C>T | ||
| ENST00000542570.5:c.403C>T | ENSP00000442336.2:p.Arg135Ter | |
| ENST00000580095.5:c.328C>T | ENSP00000462790.1:p.Arg110Ter | |
| ENST00000582981.5:c.*59C>T | ENSP00000462378.1:n.*59C>T | |
| ENST00000584582.5:c.*59C>T | ENSP00000462136.1:n.*59C>T | |
| ENST00000584669.5:n.542+1683C>T | ||
| NM_004618.3:c.403C>T | NP_004609.1:p.Arg135Ter | |
| XM_005256776.2:c.118C>T | XP_005256833.1:p.Arg40Ter | |
| XM_011524000.1:c.403C>T | XP_011522302.1:p.Arg135Ter | |
| XM_011524001.1:c.-800C>T | XP_011522303.1:n.-800C>T | |
| NM_001320759.1:c.118C>T | NP_001307688.1:p.Arg40Ter | |
| NM_004618.4:c.403C>T | NP_004609.1:p.Arg135Ter | |
| XM_011524001.2:c.-800C>T | XP_011522303.1:n.-800C>T | |
| XM_024450903.1:c.-519C>T | XP_024306671.1:n.-519C>T | |
| XR_001752601.2:n.621C>T | ||
| NM_004618.5:c.403C>T MANE Select | NP_004609.1:p.Arg135Ter | |
| NM_001320759.2:c.118C>T | NP_001307688.1:p.Arg40Ter |