Linked Data
ClinVar Variation Id:
2441475
ClinVar RCV Id:
RCV003144016
dbSNP Id:
rs767712164
ExAC:
3:58155476 T / A
gnomAD v2:
3-58155476-T-A
gnomAD v4:
3-58169749-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58169749T>A , CM000665.2:g.58169749T>A | GRCh38 |
| NC_000003.11:g.58155476T>A , CM000665.1:g.58155476T>A | GRCh37 |
| NC_000003.10:g.58130516T>A | NCBI36 |
| NG_012801.1:g.166350T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419752.4:n.4246T>A (FLNB) | ||
| ENST00000682297.1:n.2929T>A (FLNB) | ||
| ENST00000682503.1:n.1777T>A (FLNB) | ||
| ENST00000682871.1:c.7457T>A (FLNB) | ENSP00000507805.1:p.Phe2486Tyr | |
| ENST00000683114.1:n.2248T>A (FLNB) | ||
| ENST00000684439.1:n.3888T>A (FLNB) | ||
| ENST00000684506.1:c.*6130T>A (FLNB) | ENSP00000507728.1:n.*6130T>A | |
| ENST00000684607.1:c.*669T>A (FLNB) | ENSP00000508224.1:n.*669T>A | |
| ENST00000295956.9:c.7577T>A (FLNB) MANE Select | ENSP00000295956.5:p.Phe2526Tyr | |
| ENST00000295956.8:c.7577T>A (FLNB) | ENSP00000295956.4:p.Phe2526Tyr | |
| ENST00000358537.7:c.7505T>A (FLNB) | ENSP00000351339.3:p.Phe2502Tyr | |
| ENST00000419752.3:c.257T>A (FLNB) | ENSP00000414532.3:p.Phe86Tyr | |
| ENST00000429972.6:c.7544T>A (FLNB) | ENSP00000415599.2:p.Phe2515Tyr | |
| ENST00000481470.5:n.4776T>A (FLNB) | ||
| ENST00000484981.1:n.484T>A (FLNB) | ||
| ENST00000490882.5:c.7670T>A (FLNB) | ENSP00000420213.1:p.Phe2557Tyr | |
| ENST00000493452.5:c.6998T>A (FLNB) | ENSP00000418510.1:p.Phe2333Tyr | |
| NM_001164317.1:c.7670T>A (FLNB) | NP_001157789.1:p.Phe2557Tyr | |
| NM_001164318.1:c.7544T>A (FLNB) | NP_001157790.1:p.Phe2515Tyr | |
| NM_001164319.1:c.7505T>A (FLNB) | NP_001157791.1:p.Phe2502Tyr | |
| NM_001457.3:c.7577T>A (FLNB) | NP_001448.2:p.Phe2526Tyr | |
| XM_005264977.1:c.7637T>A (FLNB) | XP_005265034.1:p.Phe2546Tyr | |
| XM_005264978.1:c.7598T>A (FLNB) | XP_005265035.1:p.Phe2533Tyr | |
| XR_940875.1:n.139+748A>T (FLNB-AS1) | ||
| NR_135534.1:n.139+748A>T (FLNB-AS1) | ||
| XM_005264978.2:c.7598T>A (FLNB) | XP_005265035.1:p.Phe2533Tyr | |
| XR_001740065.1:n.7885T>A (FLNB) | ||
| NM_001164317.2:c.7670T>A (FLNB) | NP_001157789.1:p.Phe2557Tyr | |
| NM_001164318.2:c.7544T>A (FLNB) | NP_001157790.1:p.Phe2515Tyr | |
| NM_001164319.2:c.7505T>A (FLNB) | NP_001157791.1:p.Phe2502Tyr | |
| NM_001457.4:c.7577T>A (FLNB) MANE Select | NP_001448.2:p.Phe2526Tyr |