Linked Data
ClinVar Variation Id:
388119
dbSNP Id:
rs150305320
ExAC:
5:125887754 T / C
gnomAD v2:
5-125887754-T-C
gnomAD v3:
5-126552062-T-C
gnomAD v4:
5-126552062-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552062T>C , CM000667.2:g.126552062T>C | GRCh38 |
| NC_000005.9:g.125887754T>C , CM000667.1:g.125887754T>C | GRCh37 |
| NC_000005.8:g.125915653T>C | NCBI36 |
| NG_008600.2:g.48329A>G | |
| NG_008600.3:g.48329A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1276A>G MANE Select | ENSP00000387123.3:p.Thr426Ala | |
| ENST00000458249.6:c.*1185A>G | ENSP00000403929.1:n.*1185A>G | |
| ENST00000497231.7:n.1703A>G | ||
| ENST00000503281.6:c.865A>G | ||
| ENST00000635851.1:c.1274A>G | ||
| ENST00000636062.1:n.1171A>G | ||
| ENST00000636225.1:c.*1220A>G | ENSP00000490797.1:n.*1220A>G | |
| ENST00000636286.1:n.994A>G | ||
| ENST00000636482.1:n.763A>G | ||
| ENST00000636743.1:c.1156A>G | ENSP00000489725.1:p.Thr386Ala | |
| ENST00000636808.1:c.*1085A>G | ENSP00000490833.1:n.*1085A>G | |
| ENST00000636872.1:c.1436A>G | ENSP00000490919.1:n.1436A>G | |
| ENST00000636879.1:c.1321A>G | ENSP00000490811.1:p.Thr441Ala | |
| ENST00000636886.1:c.1075A>G | ENSP00000490371.1:p.Thr359Ala | |
| ENST00000637206.1:c.1096A>G | ENSP00000489895.1:p.Thr366Ala | |
| ENST00000637272.1:c.1267A>G | ENSP00000489686.1:p.Thr423Ala | |
| ENST00000637292.1:c.774-1769A>G | ||
| ENST00000637782.1:c.1276A>G | ENSP00000490024.1:p.Thr426Ala | |
| ENST00000638008.1:c.*1120A>G | ENSP00000490400.1:n.*1120A>G | |
| ENST00000638010.1:n.1222A>G | ||
| ENST00000409134.7:c.1276A>G | ENSP00000387123.3:p.Thr426Ala | |
| ENST00000447989.6:c.1165A>G | ENSP00000414132.2:p.Thr389Ala | |
| ENST00000476328.1:n.41A>G | ||
| ENST00000497231.6:n.1486A>G | ||
| ENST00000503281.5:c.865A>G | ||
| ENST00000553117.5:c.1084A>G | ENSP00000448593.1:p.Thr362Ala | |
| NM_001182.4:c.1276A>G | NP_001173.2:p.Thr426Ala | |
| NM_001201377.1:c.1192A>G | NP_001188306.1:p.Thr398Ala | |
| NM_001202404.1:c.1165A>G | NP_001189333.1:p.Thr389Ala | |
| XM_011543417.1:c.871A>G | XP_011541719.1:p.Thr291Ala | |
| XM_011543417.2:c.871A>G | XP_011541719.1:p.Thr291Ala | |
| NM_001182.5:c.1276A>G MANE Select | NP_001173.2:p.Thr426Ala | |
| NM_001201377.2:c.1192A>G | NP_001188306.1:p.Thr398Ala | |
| NM_001202404.2:c.1084A>G | NP_001189333.2:p.Thr362Ala |