Linked Data
ClinVar Variation Id:
330539
ClinVar RCV Id:
RCV000281944
dbSNP Id:
rs78093267
ExAC:
19:7626361 C / T
gnomAD v2:
19-7626361-C-T
gnomAD v3:
19-7561475-C-T
gnomAD v4:
19-7561475-C-T
COSMIC:
COSN5440026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7561475C>T , CM000681.2:g.7561475C>T | GRCh38 |
| NC_000019.9:g.7626361C>T , CM000681.1:g.7626361C>T | GRCh37 |
| NC_000019.8:g.7532361C>T | NCBI36 |
| NG_013374.1:g.32324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.4024-13C>T MANE Select | ENSP00000473211.1:n.4024-13C>T | |
| ENST00000221249.10:c.3910-13C>T | ENSP00000221249.5:n.3910-13C>T | |
| ENST00000414982.7:c.4054-13C>T | ENSP00000407509.2:n.4054-13C>T | |
| ENST00000450331.7:c.3910-13C>T | ENSP00000394348.2:n.3910-13C>T | |
| ENST00000545201.6:c.3829-13C>T | ENSP00000443323.1:n.3829-13C>T | |
| ENST00000597202.1:n.382-13C>T | ||
| ENST00000599947.1:c.393-13C>T | ||
| ENST00000600737.5:c.4024-13C>T | ENSP00000473211.1:n.4024-13C>T | |
| NM_001166111.1:c.4054-13C>T | NP_001159583.1:n.4054-13C>T | |
| NM_001166112.1:c.3829-13C>T | NP_001159584.1:n.3829-13C>T | |
| NM_001166113.1:c.3910-13C>T | NP_001159585.1:n.3910-13C>T | |
| NM_001166114.1:c.4024-13C>T | NP_001159586.1:n.4024-13C>T | |
| NM_006702.4:c.3910-13C>T | NP_006693.3:n.3910-13C>T | |
| NM_001166111.2:c.4054-13C>T | NP_001159583.1:n.4054-13C>T | |
| NM_001166114.2:c.4024-13C>T MANE Select | NP_001159586.1:n.4024-13C>T | |
| NM_006702.5:c.3910-13C>T | NP_006693.3:n.3910-13C>T | |
| NM_001166112.2:c.3829-13C>T | NP_001159584.1:n.3829-13C>T |