Linked Data
dbSNP Id:
rs190515913
gnomAD v2:
12-4405314-C-T
gnomAD v3:
12-4296148-C-T
gnomAD v4:
12-4296148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4296148C>T , CM000674.2:g.4296148C>T | GRCh38 |
| NC_000012.11:g.4405314C>T , CM000674.1:g.4405314C>T | GRCh37 |
| NC_000012.10:g.4275575C>T | NCBI36 |
| NG_034254.1:g.27413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261254.8:c.721-3712C>T MANE Select | ENSP00000261254.3:n.721-3712C>T | |
| ENST00000536537.2:n.851-1609C>T | ||
| ENST00000648100.1:c.720+7158C>T | ENSP00000497536.1:n.720+7158C>T | |
| ENST00000674624.1:c.720+7158C>T | ENSP00000501898.1:n.720+7158C>T | |
| ENST00000675468.1:n.645-3712C>T | ||
| ENST00000675880.1:c.763-3712C>T | ENSP00000502508.1:n.763-3712C>T | |
| ENST00000676279.1:c.721-3712C>T | ENSP00000502597.1:n.721-3712C>T | |
| ENST00000676411.1:c.721-3712C>T | ENSP00000502654.1:n.721-3712C>T | |
| ENST00000261254.7:c.721-3712C>T | ENSP00000261254.3:n.721-3712C>T | |
| ENST00000536537.1:c.318-1609C>T | ||
| NM_001759.3:c.721-3712C>T | NP_001750.1:n.721-3712C>T | |
| NM_001759.4:c.721-3712C>T MANE Select | NP_001750.1:n.721-3712C>T |