Linked Data
ClinVar Variation Id:
456612
ClinVar RCV Id:
RCV000539540
dbSNP Id:
rs1452844753
gnomAD v2:
1-156849155-G-T
gnomAD v3:
1-156879363-G-T
gnomAD v4:
1-156879363-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879363G>T , CM000663.2:g.156879363G>T | GRCh38 |
| NC_000001.10:g.156849155G>T , CM000663.1:g.156849155G>T | GRCh37 |
| NC_000001.9:g.155115779G>T | NCBI36 |
| NG_007493.1:g.68614G>T , LRG_261:g.68614G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1866+1G>T | ENSP00000502725.1:n.1866+1G>T | |
| ENST00000392302.7:c.1866+1G>T | ENSP00000376120.3:n.1866+1G>T | |
| ENST00000497019.7:c.*638+1G>T | ENSP00000436804.2:n.*638+1G>T | |
| ENST00000524377.7:c.2046+1G>T MANE Select | ENSP00000431418.1:n.2046+1G>T | |
| ENST00000531606.2:c.14+1G>T | ||
| ENST00000674537.1:c.1866+1G>T | ENSP00000502725.1:n.1866+1G>T | |
| ENST00000358660.3:c.2037+1G>T | ENSP00000351486.3:n.2037+1G>T | |
| ENST00000368196.7:c.2028+1G>T | ENSP00000357179.3:n.2028+1G>T | |
| ENST00000392302.6:c.1938+1G>T | ENSP00000376120.2:n.1938+1G>T | |
| ENST00000497019.6:c.*638+1G>T | ENSP00000436804.1:n.*638+1G>T | |
| ENST00000524377.5:c.2046+1G>T | ENSP00000431418.1:n.2046+1G>T | |
| ENST00000530298.5:n.2499+1G>T | ||
| NM_001007792.1:c.1938+1G>T , LRG_261t1:c.1938+1G>T | NP_001007793.1:n.1938+1G>T | |
| NM_001012331.1:c.2028+1G>T , LRG_261t2:c.2028+1G>T | NP_001012331.1:n.2028+1G>T | |
| NM_002529.3:c.2046+1G>T , LRG_261t3:c.2046+1G>T | NP_002520.2:n.2046+1G>T | |
| NM_001012331.2:c.2028+1G>T | NP_001012331.1:n.2028+1G>T | |
| NM_002529.4:c.2046+1G>T MANE Select | NP_002520.2:n.2046+1G>T |