Linked Data
ClinVar Variation Id:
1125075
dbSNP Id:
rs2153112767
gnomAD v4:
4-41746014-C-T
MyVariant Identifiers:
chr4:g.41748031C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746014C>T , CM000666.2:g.41746014C>T | GRCh38 |
| NC_000004.11:g.41748031C>T , CM000666.1:g.41748031C>T | GRCh37 |
| NC_000004.10:g.41442788C>T | NCBI36 |
| NG_008243.1:g.7957G>A , LRG_513:g.7957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.738G>A MANE Select | ENSP00000226382.2:p.Ala246= | |
| ENST00000226382.3:c.738G>A | ENSP00000226382.2:p.Ala246= | |
| NM_003924.3:c.738G>A , LRG_513t1:c.738G>A | NP_003915.2:p.Ala246= | |
| NM_003924.4:c.738G>A MANE Select | NP_003915.2:p.Ala246= |