Linked Data
ClinVar Variation Id:
900355
dbSNP Id:
rs536235346
ExAC:
3:49162549 C / T
gnomAD v2:
3-49162549-C-T
gnomAD v3:
3-49125116-C-T
gnomAD v4:
3-49125116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125116C>T , CM000665.2:g.49125116C>T | GRCh38 |
| NC_000003.11:g.49162549C>T , CM000665.1:g.49162549C>T | GRCh37 |
| NC_000003.10:g.49137553C>T | NCBI36 |
| NG_008094.1:g.13051G>A | |
| NG_054716.1:g.823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2774G>A MANE Select | ENSP00000307156.4:p.Arg925Gln | |
| ENST00000305544.8:c.2774G>A | ENSP00000307156.4:p.Arg925Gln | |
| ENST00000418109.5:c.2774G>A | ENSP00000388325.1:p.Arg925Gln | |
| ENST00000462930.5:n.181G>A | ||
| ENST00000464891.5:n.507G>A | ||
| ENST00000483057.1:n.374G>A | ||
| ENST00000486298.5:n.479G>A | ||
| ENST00000542580.1:n.89G>A | ||
| NM_002292.3:c.2774G>A | NP_002283.3:p.Arg925Gln | |
| XM_005265127.3:c.2774G>A | XP_005265184.1:p.Arg925Gln | |
| XM_005265127.4:c.2774G>A | XP_005265184.1:p.Arg925Gln | |
| NM_002292.4:c.2774G>A MANE Select | NP_002283.3:p.Arg925Gln |