Linked Data
ClinVar Variation Id:
1651970
ClinVar RCV Id:
RCV002154311
dbSNP Id:
rs780967053
gnomAD v2:
4-41748359-G-A
gnomAD v3:
4-41746342-G-A
gnomAD v4:
4-41746342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746342G>A , CM000666.2:g.41746342G>A | GRCh38 |
| NC_000004.11:g.41748359G>A , CM000666.1:g.41748359G>A | GRCh37 |
| NC_000004.10:g.41443116G>A | NCBI36 |
| NG_008243.1:g.7629C>T , LRG_513:g.7629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.430-20C>T MANE Select | ENSP00000226382.2:n.430-20C>T | |
| ENST00000226382.3:c.430-20C>T | ENSP00000226382.2:n.430-20C>T | |
| ENST00000510424.2:n.251-20C>T | ||
| NM_003924.3:c.430-20C>T , LRG_513t1:c.430-20C>T | NP_003915.2:n.430-20C>T | |
| NM_003924.4:c.430-20C>T MANE Select | NP_003915.2:n.430-20C>T |