Linked Data
ClinVar Variation Id:
2795095
ClinVar RCV Id:
RCV003624757
dbSNP Id:
rs1419999276
gnomAD v2:
1-156845303-C-T
gnomAD v4:
1-156875511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875511C>T , CM000663.2:g.156875511C>T | GRCh38 |
| NC_000001.10:g.156845303C>T , CM000663.1:g.156845303C>T | GRCh37 |
| NC_000001.9:g.155111927C>T | NCBI36 |
| NG_007493.1:g.64762C>T , LRG_261:g.64762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1175-9C>T | ENSP00000502725.1:n.1175-9C>T | |
| ENST00000392302.7:c.1175-9C>T | ENSP00000376120.3:n.1175-9C>T | |
| ENST00000497019.7:c.1042-9C>T | ENSP00000436804.2:n.1042-9C>T | |
| ENST00000524377.7:c.1355-9C>T MANE Select | ENSP00000431418.1:n.1355-9C>T | |
| ENST00000674537.1:c.1175-9C>T | ENSP00000502725.1:n.1175-9C>T | |
| ENST00000358660.3:c.1337-9C>T | ENSP00000351486.3:n.1337-9C>T | |
| ENST00000368196.7:c.1337-9C>T | ENSP00000357179.3:n.1337-9C>T | |
| ENST00000392302.6:c.1247-9C>T | ENSP00000376120.2:n.1247-9C>T | |
| ENST00000497019.6:c.1114-9C>T | ENSP00000436804.1:n.1114-9C>T | |
| ENST00000524377.5:c.1355-9C>T | ENSP00000431418.1:n.1355-9C>T | |
| ENST00000530298.5:n.1395-9C>T | ||
| ENST00000534682.1:n.578-9C>T | ||
| NM_001007792.1:c.1247-9C>T , LRG_261t1:c.1247-9C>T | NP_001007793.1:n.1247-9C>T | |
| NM_001012331.1:c.1337-9C>T , LRG_261t2:c.1337-9C>T | NP_001012331.1:n.1337-9C>T | |
| NM_002529.3:c.1355-9C>T , LRG_261t3:c.1355-9C>T | NP_002520.2:n.1355-9C>T | |
| NM_001012331.2:c.1337-9C>T | NP_001012331.1:n.1337-9C>T | |
| NM_002529.4:c.1355-9C>T MANE Select | NP_002520.2:n.1355-9C>T |