Linked Data
ClinVar Variation Id:
280469
dbSNP Id:
rs114733570
ExAC:
1:152287839 C / A
gnomAD v2:
1-152287839-C-A
gnomAD v3:
1-152315363-C-A
gnomAD v4:
1-152315363-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152315363C>A , CM000663.2:g.152315363C>A | GRCh38 |
| NC_000001.10:g.152287839C>A , CM000663.1:g.152287839C>A | GRCh37 |
| NC_000001.9:g.150554463C>A | NCBI36 |
| NG_016190.1:g.14841G>T , LRG_1028:g.14841G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.94G>T MANE Select | ENSP00000357789.1:p.Glu32Ter | |
| ENST00000368799.1:c.94G>T | ENSP00000357789.1:p.Glu32Ter | |
| NM_002016.1:c.94G>T , LRG_1028t1:c.94G>T | NP_002007.1:p.Glu32Ter | |
| NR_103778.1:n.914+406C>A | ||
| XM_011509329.1:c.94G>T | XP_011507631.1:p.Glu32Ter | |
| NM_002016.2:c.94G>T MANE Select | NP_002007.1:p.Glu32Ter |