Linked Data
ClinVar Variation Id:
1747714
ClinVar RCV Id:
RCV002349766
gnomAD v4:
4-41746206-G-A
MyVariant Identifiers:
chr4:g.41748223G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746206G>A , CM000666.2:g.41746206G>A | GRCh38 |
| NC_000004.11:g.41748223G>A , CM000666.1:g.41748223G>A | GRCh37 |
| NC_000004.10:g.41442980G>A | NCBI36 |
| NG_008243.1:g.7765C>T , LRG_513:g.7765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.546C>T MANE Select | ENSP00000226382.2:p.Asp182= | |
| ENST00000226382.3:c.546C>T | ENSP00000226382.2:p.Asp182= | |
| ENST00000510424.2:n.367C>T | ||
| NM_003924.3:c.546C>T , LRG_513t1:c.546C>T | NP_003915.2:p.Asp182= | |
| NM_003924.4:c.546C>T MANE Select | NP_003915.2:p.Asp182= |