Linked Data
ClinVar Variation Id:
31858
ClinVar RCV Id:
RCV000024553
dbSNP Id:
rs891186
gnomAD v2:
19-55644442-G-A
gnomAD v3:
19-55133074-G-A
gnomAD v4:
19-55133074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55133074G>A , CM000681.2:g.55133074G>A | GRCh38 |
| NC_000019.9:g.55644442G>A , CM000681.1:g.55644442G>A | GRCh37 |
| NC_000019.8:g.60336254G>A | NCBI36 |
| NG_011829.2:g.21165C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588981.6:c.792-114C>T MANE Select | ENSP00000467176.1:n.792-114C>T | |
| ENST00000291901.12:c.744-114C>T | ENSP00000291901.8:n.744-114C>T | |
| ENST00000356783.9:c.711-114C>T | ENSP00000349233.4:n.711-114C>T | |
| ENST00000536926.5:c.534-114C>T | ENSP00000439640.2:n.534-114C>T | |
| ENST00000585321.6:c.534-114C>T | ENSP00000467980.2:n.534-114C>T | |
| ENST00000586649.2:c.330-114C>T | ||
| ENST00000587089.6:c.796-114C>T | ||
| ENST00000587465.6:c.534-114C>T | ENSP00000464843.2:n.534-114C>T | |
| ENST00000587758.5:c.711-114C>T | ENSP00000467789.1:n.711-114C>T | |
| ENST00000588426.5:c.435-114C>T | ENSP00000465991.1:n.435-114C>T | |
| ENST00000588981.5:c.792-114C>T | ENSP00000467176.1:n.792-114C>T | |
| ENST00000589745.5:c.397-114C>T | ||
| ENST00000593194.5:c.587-114C>T | ||
| NM_001126132.2:c.744-114C>T | NP_001119604.1:n.744-114C>T | |
| NM_001126133.2:c.711-114C>T | NP_001119605.1:n.711-114C>T | |
| NM_001291774.1:c.711-114C>T | NP_001278703.1:n.711-114C>T | |
| NM_003283.5:c.792-114C>T | NP_003274.3:n.792-114C>T | |
| XM_006723343.2:c.780-114C>T | XP_006723406.1:n.780-114C>T | |
| XM_011527243.1:c.768-114C>T | XP_011525545.1:n.768-114C>T | |
| XM_011527244.1:c.747-114C>T | XP_011525546.1:n.747-114C>T | |
| XM_011527245.1:c.744-114C>T | XP_011525547.1:n.744-114C>T | |
| XM_011527246.1:c.732-114C>T | XP_011525548.1:n.732-114C>T | |
| XM_011527246.3:c.732-114C>T | XP_011525548.1:n.732-114C>T | |
| XM_017027186.1:c.744-114C>T | XP_016882675.1:n.744-114C>T | |
| XM_017027187.1:c.732-114C>T | XP_016882676.1:n.732-114C>T | |
| NM_003283.6:c.792-114C>T MANE Select | NP_003274.3:n.792-114C>T | |
| NM_001126132.3:c.744-114C>T | NP_001119604.1:n.744-114C>T | |
| NM_001126133.3:c.711-114C>T | NP_001119605.1:n.711-114C>T | |
| NM_001291774.2:c.711-114C>T | NP_001278703.1:n.711-114C>T |