Linked Data
ClinVar Variation Id:
367703
dbSNP Id:
rs1057515726
gnomAD v2:
X-106893350-C-T
gnomAD v3:
X-107650120-C-T
gnomAD v4:
X-107650120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107650120C>T , CM000685.2:g.107650120C>T | GRCh38 |
| NC_000023.10:g.106893350C>T , CM000685.1:g.106893350C>T | GRCh37 |
| NC_000023.9:g.106780006C>T | NCBI36 |
| NG_008407.1:g.26697C>T , LRG_264:g.26697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.*88C>T | ENSP00000361495.2:n.*88C>T | |
| ENST00000372428.9:c.428C>T | ||
| ENST00000372435.10:c.*88C>T MANE Select | ENSP00000361512.4:n.*88C>T | |
| ENST00000643795.2:c.802-458C>T | ENSP00000496286.1:n.802-458C>T | |
| ENST00000644642.1:c.*514C>T | ENSP00000495493.1:n.*514C>T | |
| ENST00000674826.1:c.*738C>T | ENSP00000502278.1:n.*738C>T | |
| ENST00000675263.1:c.181C>T | ENSP00000502081.1:n.181C>T | |
| ENST00000675875.1:c.22-496C>T | ||
| ENST00000676322.1:c.181C>T | ENSP00000501977.1:n.181C>T | |
| ENST00000372418.2:c.*88C>T | ENSP00000361495.1:n.*88C>T | |
| ENST00000372428.8:c.*88C>T | ENSP00000361505.5:n.*88C>T | |
| ENST00000372435.8:c.*88C>T | ENSP00000361512.4:n.*88C>T | |
| NM_001204402.1:c.*88C>T | NP_001191331.1:n.*88C>T | |
| NM_002764.3:c.*88C>T , LRG_264t1:c.*88C>T | NP_002755.1:n.*88C>T | |
| NM_002764.4:c.*88C>T MANE Select | NP_002755.1:n.*88C>T | |
| NM_001204402.2:c.*88C>T | NP_001191331.1:n.*88C>T |