Linked Data
ClinVar Variation Id:
204835
dbSNP Id:
rs58528748
ExAC:
5:125929086 G / T
gnomAD v2:
5-125929086-G-T
gnomAD v3:
5-126593394-G-T
gnomAD v4:
5-126593394-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126593394G>T , CM000667.2:g.126593394G>T | GRCh38 |
| NC_000005.9:g.125929086G>T , CM000667.1:g.125929086G>T | GRCh37 |
| NC_000005.8:g.125956985G>T | NCBI36 |
| NG_008600.2:g.6997C>A | |
| NG_008600.3:g.6997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.203C>A MANE Select | ENSP00000387123.3:p.Thr68Asn | |
| ENST00000412186.2:c.203C>A | ENSP00000414536.2:p.Thr68Asn | |
| ENST00000413020.6:c.203C>A | ENSP00000487936.1:p.Thr68Asn | |
| ENST00000458249.6:c.*112C>A | ENSP00000403929.1:n.*112C>A | |
| ENST00000479989.6:n.386C>A | ||
| ENST00000503281.6:c.106+1613C>A | ||
| ENST00000509270.2:c.203C>A | ENSP00000449318.2:p.Thr68Asn | |
| ENST00000509459.6:c.65+1613C>A | ||
| ENST00000511266.6:n.925C>A | ||
| ENST00000635851.1:c.201C>A | ||
| ENST00000635858.1:n.42C>A | ||
| ENST00000635933.1:n.232C>A | ||
| ENST00000636062.1:n.98C>A | ||
| ENST00000636190.1:n.82C>A | ||
| ENST00000636225.1:c.*12C>A | ENSP00000490797.1:n.*12C>A | |
| ENST00000636743.1:c.192+1613C>A | ENSP00000489725.1:n.192+1613C>A | |
| ENST00000636808.1:c.*12C>A | ENSP00000490833.1:n.*12C>A | |
| ENST00000636872.1:c.363C>A | ENSP00000490919.1:n.363C>A | |
| ENST00000636879.1:c.203C>A | ENSP00000490811.1:p.Thr68Asn | |
| ENST00000636886.1:c.192+1613C>A | ENSP00000490371.1:n.192+1613C>A | |
| ENST00000637206.1:c.203C>A | ENSP00000489895.1:p.Thr68Asn | |
| ENST00000637272.1:c.203C>A | ENSP00000489686.1:p.Thr68Asn | |
| ENST00000637782.1:c.203C>A | ENSP00000490024.1:p.Thr68Asn | |
| ENST00000637964.1:c.193-665C>A | ENSP00000490291.1:n.193-665C>A | |
| ENST00000638008.1:c.*12C>A | ENSP00000490400.1:n.*12C>A | |
| ENST00000409134.7:c.203C>A | ENSP00000387123.3:p.Thr68Asn | |
| ENST00000412186.1:c.*12C>A | ENSP00000414536.1:n.*12C>A | |
| ENST00000413020.5:c.203C>A | ENSP00000487936.1:p.Thr68Asn | |
| ENST00000447989.6:c.284C>A | ENSP00000414132.2:p.Thr95Asn | |
| ENST00000458249.5:c.363C>A | ENSP00000403929.1:n.363C>A | |
| ENST00000479989.5:n.386C>A | ||
| ENST00000503281.5:c.106+1613C>A | ||
| ENST00000509270.1:c.192+1613C>A | ENSP00000449318.1:n.192+1613C>A | |
| ENST00000509459.5:c.65+1613C>A | ||
| ENST00000510111.6:c.197C>A | ENSP00000447388.1:p.Thr66Asn | |
| ENST00000511266.5:n.158C>A | ||
| ENST00000553117.5:c.203C>A | ENSP00000448593.1:p.Thr68Asn | |
| NM_001182.4:c.203C>A | NP_001173.2:p.Thr68Asn | |
| NM_001201377.1:c.119C>A | NP_001188306.1:p.Thr40Asn | |
| NM_001202404.1:c.284C>A | NP_001189333.1:p.Thr95Asn | |
| XM_011543417.1:c.-203C>A | XP_011541719.1:n.-203C>A | |
| XM_011543417.2:c.-203C>A | XP_011541719.1:n.-203C>A | |
| NM_001182.5:c.203C>A MANE Select | NP_001173.2:p.Thr68Asn | |
| NM_001201377.2:c.119C>A | NP_001188306.1:p.Thr40Asn | |
| NM_001202404.2:c.203C>A | NP_001189333.2:p.Thr68Asn |