Linked Data
ClinVar Variation Id:
967064
ClinVar RCV Id:
RCV001241884
dbSNP Id:
rs104894385
ExAC:
13:77566311 G / T
gnomAD v2:
13-77566311-G-T
gnomAD v3:
13-76992176-G-T
gnomAD v4:
13-76992176-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992176G>T , CM000675.2:g.76992176G>T | GRCh38 |
| NC_000013.10:g.77566311G>T , CM000675.1:g.77566311G>T | GRCh37 |
| NC_000013.9:g.76464312G>T | NCBI36 |
| NG_009064.1:g.5253G>T , LRG_692:g.5253G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.78G>T MANE Select | ENSP00000366673.5:p.Trp26Cys | |
| ENST00000485938.4:c.78G>T | ENSP00000482959.3:p.Trp26Cys | |
| ENST00000616833.6:c.78G>T | ENSP00000479547.3:p.Trp26Cys | |
| ENST00000635905.1:n.79G>T | ||
| ENST00000635915.1:c.17G>T | ||
| ENST00000635989.1:n.88G>T | ||
| ENST00000636183.2:c.78G>T | ENSP00000490181.2:p.Trp26Cys | |
| ENST00000636525.2:c.78G>T | ENSP00000490078.2:p.Trp26Cys | |
| ENST00000636767.2:c.78G>T | ENSP00000489855.2:p.Trp26Cys | |
| ENST00000636780.2:c.78G>T | ENSP00000489809.2:p.Trp26Cys | |
| ENST00000637397.2:c.78G>T | ENSP00000490422.2:p.Trp26Cys | |
| ENST00000637537.2:c.78G>T | ENSP00000489711.2:p.Trp26Cys | |
| ENST00000638147.2:c.78G>T | ENSP00000490953.2:p.Trp26Cys | |
| ENST00000377453.7:c.225G>T | ENSP00000366673.3:p.Trp75Cys | |
| ENST00000485938.2:c.61G>T | ||
| ENST00000616833.4:c.78G>T | ENSP00000479547.1:p.Trp26Cys | |
| NM_006493.2:c.225G>T , LRG_692t1:c.225G>T | NP_006484.1:p.Trp75Cys | |
| XM_011534917.1:c.225G>T | XP_011533219.1:p.Trp75Cys | |
| NM_001366624.1:c.78G>T | NP_001353553.1:p.Trp26Cys | |
| NM_006493.3:c.78G>T | NP_006484.2:p.Trp26Cys | |
| NM_001366624.2:c.78G>T | NP_001353553.1:p.Trp26Cys | |
| NM_006493.4:c.78G>T MANE Select | NP_006484.2:p.Trp26Cys |