Linked Data
ClinVar Variation Id:
508938
dbSNP Id:
rs757418085
ExAC:
3:58149023 C / T
gnomAD v2:
3-58149023-C-T
gnomAD v3:
3-58163296-C-T
gnomAD v4:
3-58163296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58163296C>T , CM000665.2:g.58163296C>T | GRCh38 |
| NC_000003.11:g.58149023C>T , CM000665.1:g.58149023C>T | GRCh37 |
| NC_000003.10:g.58124063C>T | NCBI36 |
| NG_012801.1:g.159897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.2516C>T (FLNB) | ||
| ENST00000682503.1:n.1364C>T (FLNB) | ||
| ENST00000682871.1:c.7044C>T (FLNB) | ENSP00000507805.1:p.Ser2348= | |
| ENST00000683114.1:n.1835C>T (FLNB) | ||
| ENST00000684439.1:n.3475C>T (FLNB) | ||
| ENST00000684506.1:c.*5717C>T (FLNB) | ENSP00000507728.1:n.*5717C>T | |
| ENST00000684607.1:c.*256C>T (FLNB) | ENSP00000508224.1:n.*256C>T | |
| ENST00000295956.9:c.7164C>T (FLNB) MANE Select | ENSP00000295956.5:p.Ser2388= | |
| ENST00000295956.8:c.7164C>T (FLNB) | ENSP00000295956.4:p.Ser2388= | |
| ENST00000358537.7:c.7092C>T (FLNB) | ENSP00000351339.3:p.Ser2364= | |
| ENST00000429972.6:c.7131C>T (FLNB) | ENSP00000415599.2:p.Ser2377= | |
| ENST00000475487.1:n.325C>T (FLNB) | ||
| ENST00000481470.5:n.3432C>T (FLNB) | ||
| ENST00000490882.5:c.7257C>T (FLNB) | ENSP00000420213.1:p.Ser2419= | |
| ENST00000493452.5:c.6585C>T (FLNB) | ENSP00000418510.1:p.Ser2195= | |
| NM_001164317.1:c.7257C>T (FLNB) | NP_001157789.1:p.Ser2419= | |
| NM_001164318.1:c.7131C>T (FLNB) | NP_001157790.1:p.Ser2377= | |
| NM_001164319.1:c.7092C>T (FLNB) | NP_001157791.1:p.Ser2364= | |
| NM_001457.3:c.7164C>T (FLNB) | NP_001448.2:p.Ser2388= | |
| XM_005264977.1:c.7224C>T (FLNB) | XP_005265034.1:p.Ser2408= | |
| XM_005264978.1:c.7185C>T (FLNB) | XP_005265035.1:p.Ser2395= | |
| XR_940875.1:n.2959G>A (FLNB-AS1) | ||
| NR_135534.1:n.2959G>A (FLNB-AS1) | ||
| XM_005264978.2:c.7185C>T (FLNB) | XP_005265035.1:p.Ser2395= | |
| XR_001740065.1:n.7472C>T (FLNB) | ||
| NM_001164317.2:c.7257C>T (FLNB) | NP_001157789.1:p.Ser2419= | |
| NM_001164318.2:c.7131C>T (FLNB) | NP_001157790.1:p.Ser2377= | |
| NM_001164319.2:c.7092C>T (FLNB) | NP_001157791.1:p.Ser2364= | |
| NM_001457.4:c.7164C>T (FLNB) MANE Select | NP_001448.2:p.Ser2388= |