gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58163161T>C , CM000665.2:g.58163161T>C | GRCh38 |
| NC_000003.11:g.58148888T>C , CM000665.1:g.58148888T>C | GRCh37 |
| NC_000003.10:g.58123928T>C | NCBI36 |
| NG_012801.1:g.159762T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.2381T>C (FLNB) | ||
| ENST00000682503.1:n.1229T>C (FLNB) | ||
| ENST00000682871.1:c.6909T>C (FLNB) | ENSP00000507805.1:p.Tyr2303= | |
| ENST00000683114.1:n.1700T>C (FLNB) | ||
| ENST00000684439.1:n.3340T>C (FLNB) | ||
| ENST00000684506.1:c.*5582T>C (FLNB) | ENSP00000507728.1:n.*5582T>C | |
| ENST00000684607.1:c.*121T>C (FLNB) | ENSP00000508224.1:n.*121T>C | |
| ENST00000295956.9:c.7029T>C (FLNB) MANE Select | ENSP00000295956.5:p.Tyr2343= | |
| ENST00000295956.8:c.7029T>C (FLNB) | ENSP00000295956.4:p.Tyr2343= | |
| ENST00000358537.7:c.6957T>C (FLNB) | ENSP00000351339.3:p.Tyr2319= | |
| ENST00000429972.6:c.6996T>C (FLNB) | ENSP00000415599.2:p.Tyr2332= | |
| ENST00000475487.1:n.190T>C (FLNB) | ||
| ENST00000481470.5:n.3297T>C (FLNB) | ||
| ENST00000490882.5:c.7122T>C (FLNB) | ENSP00000420213.1:p.Tyr2374= | |
| ENST00000493452.5:c.6450T>C (FLNB) | ENSP00000418510.1:p.Tyr2150= | |
| NM_001164317.1:c.7122T>C (FLNB) | NP_001157789.1:p.Tyr2374= | |
| NM_001164318.1:c.6996T>C (FLNB) | NP_001157790.1:p.Tyr2332= | |
| NM_001164319.1:c.6957T>C (FLNB) | NP_001157791.1:p.Tyr2319= | |
| NM_001457.3:c.7029T>C (FLNB) | NP_001448.2:p.Tyr2343= | |
| XM_005264977.1:c.7089T>C (FLNB) | XP_005265034.1:p.Tyr2363= | |
| XM_005264978.1:c.7050T>C (FLNB) | XP_005265035.1:p.Tyr2350= | |
| XR_940875.1:n.3094A>G (FLNB-AS1) | ||
| NR_135534.1:n.3094A>G (FLNB-AS1) | ||
| XM_005264978.2:c.7050T>C (FLNB) | XP_005265035.1:p.Tyr2350= | |
| XR_001740065.1:n.7337T>C (FLNB) | ||
| NM_001164317.2:c.7122T>C (FLNB) | NP_001157789.1:p.Tyr2374= | |
| NM_001164318.2:c.6996T>C (FLNB) | NP_001157790.1:p.Tyr2332= | |
| NM_001164319.2:c.6957T>C (FLNB) | NP_001157791.1:p.Tyr2319= | |
| NM_001457.4:c.7029T>C (FLNB) MANE Select | NP_001448.2:p.Tyr2343= |