Linked Data
ClinVar Variation Id:
1752957
ClinVar RCV Id:
RCV002354041
gnomAD v4:
4-41746119-A-G
MyVariant Identifiers:
chr4:g.41748136A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746119A>G , CM000666.2:g.41746119A>G | GRCh38 |
| NC_000004.11:g.41748136A>G , CM000666.1:g.41748136A>G | GRCh37 |
| NC_000004.10:g.41442893A>G | NCBI36 |
| NG_008243.1:g.7852T>C , LRG_513:g.7852T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.633T>C MANE Select | ENSP00000226382.2:p.Asn211= | |
| ENST00000226382.3:c.633T>C | ENSP00000226382.2:p.Asn211= | |
| ENST00000510424.2:n.454T>C | ||
| NM_003924.3:c.633T>C , LRG_513t1:c.633T>C | NP_003915.2:p.Asn211= | |
| NM_003924.4:c.633T>C MANE Select | NP_003915.2:p.Asn211= |