Linked Data
ClinVar Variation Id:
1417463
dbSNP Id:
rs149638325
ExAC:
3:58148895 C / T
gnomAD v2:
3-58148895-C-T
gnomAD v3:
3-58163168-C-T
gnomAD v4:
3-58163168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58163168C>T , CM000665.2:g.58163168C>T | GRCh38 |
| NC_000003.11:g.58148895C>T , CM000665.1:g.58148895C>T | GRCh37 |
| NC_000003.10:g.58123935C>T | NCBI36 |
| NG_012801.1:g.159769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.2388C>T (FLNB) | ||
| ENST00000682503.1:n.1236C>T (FLNB) | ||
| ENST00000682871.1:c.6916C>T (FLNB) | ENSP00000507805.1:p.Arg2306Cys | |
| ENST00000683114.1:n.1707C>T (FLNB) | ||
| ENST00000684439.1:n.3347C>T (FLNB) | ||
| ENST00000684506.1:c.*5589C>T (FLNB) | ENSP00000507728.1:n.*5589C>T | |
| ENST00000684607.1:c.*128C>T (FLNB) | ENSP00000508224.1:n.*128C>T | |
| ENST00000295956.9:c.7036C>T (FLNB) MANE Select | ENSP00000295956.5:p.Arg2346Cys | |
| ENST00000295956.8:c.7036C>T (FLNB) | ENSP00000295956.4:p.Arg2346Cys | |
| ENST00000358537.7:c.6964C>T (FLNB) | ENSP00000351339.3:p.Arg2322Cys | |
| ENST00000429972.6:c.7003C>T (FLNB) | ENSP00000415599.2:p.Arg2335Cys | |
| ENST00000475487.1:n.197C>T (FLNB) | ||
| ENST00000481470.5:n.3304C>T (FLNB) | ||
| ENST00000490882.5:c.7129C>T (FLNB) | ENSP00000420213.1:p.Arg2377Cys | |
| ENST00000493452.5:c.6457C>T (FLNB) | ENSP00000418510.1:p.Arg2153Cys | |
| NM_001164317.1:c.7129C>T (FLNB) | NP_001157789.1:p.Arg2377Cys | |
| NM_001164318.1:c.7003C>T (FLNB) | NP_001157790.1:p.Arg2335Cys | |
| NM_001164319.1:c.6964C>T (FLNB) | NP_001157791.1:p.Arg2322Cys | |
| NM_001457.3:c.7036C>T (FLNB) | NP_001448.2:p.Arg2346Cys | |
| XM_005264977.1:c.7096C>T (FLNB) | XP_005265034.1:p.Arg2366Cys | |
| XM_005264978.1:c.7057C>T (FLNB) | XP_005265035.1:p.Arg2353Cys | |
| XR_940875.1:n.3087G>A (FLNB-AS1) | ||
| NR_135534.1:n.3087G>A (FLNB-AS1) | ||
| XM_005264978.2:c.7057C>T (FLNB) | XP_005265035.1:p.Arg2353Cys | |
| XR_001740065.1:n.7344C>T (FLNB) | ||
| NM_001164317.2:c.7129C>T (FLNB) | NP_001157789.1:p.Arg2377Cys | |
| NM_001164318.2:c.7003C>T (FLNB) | NP_001157790.1:p.Arg2335Cys | |
| NM_001164319.2:c.6964C>T (FLNB) | NP_001157791.1:p.Arg2322Cys | |
| NM_001457.4:c.7036C>T (FLNB) MANE Select | NP_001448.2:p.Arg2346Cys |