Linked Data
ClinVar Variation Id:
367709
dbSNP Id:
rs1057515727
gnomAD v2:
X-106893800-G-T
gnomAD v3:
X-107650570-G-T
gnomAD v4:
X-107650570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107650570G>T , CM000685.2:g.107650570G>T | GRCh38 |
| NC_000023.10:g.106893800G>T , CM000685.1:g.106893800G>T | GRCh37 |
| NC_000023.9:g.106780456G>T | NCBI36 |
| NG_008407.1:g.27147G>T , LRG_264:g.27147G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372428.9:c.878G>T | ||
| ENST00000372435.10:c.*538G>T MANE Select | ENSP00000361512.4:n.*538G>T | |
| ENST00000643795.2:c.802-8G>T | ENSP00000496286.1:n.802-8G>T | |
| ENST00000644642.1:c.*964G>T | ENSP00000495493.1:n.*964G>T | |
| ENST00000675263.1:c.218+413G>T | ENSP00000502081.1:n.218+413G>T | |
| ENST00000675875.1:c.22-46G>T | ||
| ENST00000676322.1:c.584-8G>T | ENSP00000501977.1:n.584-8G>T | |
| ENST00000372428.8:c.*538G>T | ENSP00000361505.5:n.*538G>T | |
| ENST00000372435.8:c.*538G>T | ENSP00000361512.4:n.*538G>T | |
| NM_001204402.1:c.*538G>T | NP_001191331.1:n.*538G>T | |
| NM_002764.3:c.*538G>T , LRG_264t1:c.*538G>T | NP_002755.1:n.*538G>T | |
| NM_002764.4:c.*538G>T MANE Select | NP_002755.1:n.*538G>T | |
| NM_001204402.2:c.*538G>T | NP_001191331.1:n.*538G>T |