Linked Data
ClinVar Variation Id:
406411
dbSNP Id:
rs917558720
gnomAD v3:
4-41746033-C-T
gnomAD v4:
4-41746033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746033C>T , CM000666.2:g.41746033C>T | GRCh38 |
| NC_000004.11:g.41748050C>T , CM000666.1:g.41748050C>T | GRCh37 |
| NC_000004.10:g.41442807C>T | NCBI36 |
| NG_008243.1:g.7938G>A , LRG_513:g.7938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.719G>A MANE Select | ENSP00000226382.2:p.Gly240Asp | |
| ENST00000226382.3:c.719G>A | ENSP00000226382.2:p.Gly240Asp | |
| ENST00000510424.2:n.540G>A | ||
| NM_003924.3:c.719G>A , LRG_513t1:c.719G>A | NP_003915.2:p.Gly240Asp | |
| NM_003924.4:c.719G>A MANE Select | NP_003915.2:p.Gly240Asp |