Linked Data
ClinVar Variation Id:
433511
ClinVar RCV Id:
RCV000499035
dbSNP Id:
rs1264741133
PubMed:
PMID:24727260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16190163C>A , CM000678.2:g.16190163C>A | GRCh38 |
| NC_000016.9:g.16284020C>A , CM000678.1:g.16284020C>A | GRCh37 |
| NC_000016.8:g.16191521C>A | NCBI36 |
| NG_007558.2:g.38309G>T | |
| NG_007558.3:g.38455G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.1635+1G>T | ENSP00000483331.2:n.1635+1G>T | |
| ENST00000205557.12:c.1635+1G>T MANE Select | ENSP00000205557.7:n.1635+1G>T | |
| ENST00000205557.11:c.1635+1G>T | ENSP00000205557.7:n.1635+1G>T | |
| ENST00000456970.6:c.1635+1G>T | ENSP00000405002.2:n.1635+1G>T | |
| ENST00000574094.5:n.1731+1G>T | ||
| ENST00000622290.4:c.1635+1G>T | ENSP00000483331.1:n.1635+1G>T | |
| NM_001171.5:c.1635+1G>T | NP_001162.4:n.1635+1G>T | |
| XM_011522479.1:c.1635+1G>T | XP_011520781.1:n.1635+1G>T | |
| XM_011522480.1:c.1293+1G>T | XP_011520782.1:n.1293+1G>T | |
| XM_011522481.1:c.1293+1G>T | XP_011520783.1:n.1293+1G>T | |
| XM_011522482.1:c.1635+1G>T | XP_011520784.1:n.1635+1G>T | |
| XR_932836.1:n.1870+1G>T | ||
| XR_932837.1:n.1871+1G>T | ||
| XR_932838.1:n.1871+1G>T | ||
| NM_001351800.1:c.1293+1G>T | NP_001338729.1:n.1293+1G>T | |
| NR_147784.1:n.1672+1G>T | ||
| XM_011522479.2:c.1635+1G>T | XP_011520781.1:n.1635+1G>T | |
| XM_011522481.3:c.1293+1G>T | XP_011520783.1:n.1293+1G>T | |
| XM_011522482.3:c.1635+1G>T | XP_011520784.1:n.1635+1G>T | |
| XM_017023212.1:c.1635+1G>T | XP_016878701.1:n.1635+1G>T | |
| XM_017023214.1:c.1635+1G>T | XP_016878703.1:n.1635+1G>T | |
| XM_024450261.1:c.1671+1G>T | XP_024306029.1:n.1671+1G>T | |
| XR_932836.2:n.1816+1G>T | ||
| XR_932837.3:n.1816+1G>T | ||
| XR_932838.3:n.1816+1G>T | ||
| NM_001171.6:c.1635+1G>T MANE Select | NP_001162.5:n.1635+1G>T |