Linked Data
ClinVar Variation Id:
1642493
ClinVar RCV Id:
RCV002153551
dbSNP Id:
rs1659481365
gnomAD v4:
1-236754095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236754095C>T , CM000663.2:g.236754095C>T | GRCh38 |
| NC_000001.10:g.236917395C>T , CM000663.1:g.236917395C>T | GRCh37 |
| NC_000001.9:g.234984018C>T | NCBI36 |
| NG_009081.1:g.72626C>T | |
| NG_009081.2:g.94955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.1974+14C>T | ENSP00000443495.1:n.1974+14C>T | |
| ENST00000461367.2:n.270+14C>T | ||
| ENST00000492634.7:n.1904+14C>T | ||
| ENST00000682015.1:c.1881+14C>T | ENSP00000506961.1:n.1881+14C>T | |
| ENST00000682692.1:n.3069+14C>T | ||
| ENST00000682966.1:n.7615+14C>T | ||
| ENST00000683111.1:c.*1260+14C>T | ENSP00000507913.1:n.*1260+14C>T | |
| ENST00000683322.1:n.3326+14C>T | ||
| ENST00000684050.1:n.4612+14C>T | ||
| ENST00000684286.1:n.3529+14C>T | ||
| ENST00000684502.1:n.3271+14C>T | ||
| ENST00000684763.1:n.589+14C>T | ||
| ENST00000366578.6:c.1974+14C>T MANE Select | ENSP00000355537.4:n.1974+14C>T | |
| ENST00000492634.6:n.1904+14C>T | ||
| ENST00000542672.6:c.1974+14C>T | ENSP00000443495.1:n.1974+14C>T | |
| ENST00000651091.1:c.1664+14C>T | ENSP00000498677.1:n.1664+14C>T | |
| ENST00000651275.1:c.1866+14C>T | ENSP00000498926.1:n.1866+14C>T | |
| ENST00000651781.1:c.1054+14C>T | ||
| ENST00000651786.1:c.*1346+14C>T | ENSP00000498364.1:n.*1346+14C>T | |
| ENST00000652096.1:c.*1379+14C>T | ENSP00000498896.1:n.*1379+14C>T | |
| ENST00000366578.5:c.1974+14C>T | ENSP00000355537.4:n.1974+14C>T | |
| ENST00000461367.1:n.183+14C>T | ||
| ENST00000542672.5:c.1974+14C>T | ENSP00000443495.1:n.1974+14C>T | |
| ENST00000546208.5:c.1350+14C>T | ENSP00000438384.2:n.1350+14C>T | |
| NM_001103.3:c.1974+14C>T | NP_001094.1:n.1974+14C>T | |
| NM_001278343.1:c.1974+14C>T | NP_001265272.1:n.1974+14C>T | |
| NM_001278344.1:c.1350+14C>T | NP_001265273.1:n.1350+14C>T | |
| NM_001278343.2:c.1974+14C>T | NP_001265272.1:n.1974+14C>T | |
| NM_001103.4:c.1974+14C>T MANE Select | NP_001094.1:n.1974+14C>T | |
| NM_001278344.2:c.1350+14C>T | NP_001265273.1:n.1350+14C>T |