Linked Data
ClinVar Variation Id:
1517055
ClinVar RCV Id:
RCV002027065
dbSNP Id:
rs1733881041
gnomAD v4:
4-41746009-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746009G>T , CM000666.2:g.41746009G>T | GRCh38 |
| NC_000004.11:g.41748026G>T , CM000666.1:g.41748026G>T | GRCh37 |
| NC_000004.10:g.41442783G>T | NCBI36 |
| NG_008243.1:g.7962C>A , LRG_513:g.7962C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.743C>A MANE Select | ENSP00000226382.2:p.Ala248Glu | |
| ENST00000226382.3:c.743C>A | ENSP00000226382.2:p.Ala248Glu | |
| NM_003924.3:c.743C>A , LRG_513t1:c.743C>A | NP_003915.2:p.Ala248Glu | |
| NM_003924.4:c.743C>A MANE Select | NP_003915.2:p.Ala248Glu |