Linked Data
ClinVar Variation Id:
1297765
ClinVar RCV Id:
RCV001725272
dbSNP Id:
rs77305056
gnomAD v2:
1-94512773-C-T
gnomAD v3:
1-94047217-C-T
gnomAD v4:
1-94047217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047217C>T , CM000663.2:g.94047217C>T | GRCh38 |
| NC_000001.10:g.94512773C>T , CM000663.1:g.94512773C>T | GRCh37 |
| NC_000001.9:g.94285361C>T | NCBI36 |
| NG_009073.1:g.78933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2744-124G>A MANE Select | ENSP00000359245.3:n.2744-124G>A | |
| ENST00000649773.1:c.2522-124G>A | ENSP00000496882.1:n.2522-124G>A | |
| ENST00000370225.3:c.2744-124G>A | ENSP00000359245.3:n.2744-124G>A | |
| ENST00000536513.5:c.-64-7128G>A | ENSP00000439707.2:n.-64-7128G>A | |
| NM_000350.2:c.2744-124G>A | NP_000341.2:n.2744-124G>A | |
| NM_000350.3:c.2744-124G>A MANE Select | NP_000341.2:n.2744-124G>A |