Linked Data
ClinVar Variation Id:
1757994
ClinVar RCV Id:
RCV002382569
MyVariant Identifiers:
chr4:g.41748043T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746026T>A , CM000666.2:g.41746026T>A | GRCh38 |
| NC_000004.11:g.41748043T>A , CM000666.1:g.41748043T>A | GRCh37 |
| NC_000004.10:g.41442800T>A | NCBI36 |
| NG_008243.1:g.7945A>T , LRG_513:g.7945A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.726A>T MANE Select | ENSP00000226382.2:p.Ala242= | |
| ENST00000226382.3:c.726A>T | ENSP00000226382.2:p.Ala242= | |
| NM_003924.3:c.726A>T , LRG_513t1:c.726A>T | NP_003915.2:p.Ala242= | |
| NM_003924.4:c.726A>T MANE Select | NP_003915.2:p.Ala242= |