Linked Data
ClinVar Variation Id:
2236824
ClinVar RCV Id:
RCV002718847
dbSNP Id:
rs1369703288
gnomAD v2:
3-58154290-T-C
gnomAD v3:
3-58168563-T-C
gnomAD v4:
3-58168563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58168563T>C , CM000665.2:g.58168563T>C | GRCh38 |
| NC_000003.11:g.58154290T>C , CM000665.1:g.58154290T>C | GRCh37 |
| NC_000003.10:g.58129330T>C | NCBI36 |
| NG_012801.1:g.165164T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419752.4:n.3991T>C (FLNB) | ||
| ENST00000682297.1:n.2674T>C (FLNB) | ||
| ENST00000682503.1:n.1522T>C (FLNB) | ||
| ENST00000682871.1:c.7202T>C (FLNB) | ENSP00000507805.1:p.Met2401Thr | |
| ENST00000683114.1:n.1993T>C (FLNB) | ||
| ENST00000684439.1:n.3633T>C (FLNB) | ||
| ENST00000684506.1:c.*5875T>C (FLNB) | ENSP00000507728.1:n.*5875T>C | |
| ENST00000684607.1:c.*414T>C (FLNB) | ENSP00000508224.1:n.*414T>C | |
| ENST00000295956.9:c.7322T>C (FLNB) MANE Select | ENSP00000295956.5:p.Met2441Thr | |
| ENST00000295956.8:c.7322T>C (FLNB) | ENSP00000295956.4:p.Met2441Thr | |
| ENST00000358537.7:c.7250T>C (FLNB) | ENSP00000351339.3:p.Met2417Thr | |
| ENST00000419752.3:c.2T>C (FLNB) | ENSP00000414532.3:p.Met1Thr | |
| ENST00000429972.6:c.7289T>C (FLNB) | ENSP00000415599.2:p.Met2430Thr | |
| ENST00000481470.5:n.3590T>C (FLNB) | ||
| ENST00000484981.1:n.229T>C (FLNB) | ||
| ENST00000490882.5:c.7415T>C (FLNB) | ENSP00000420213.1:p.Met2472Thr | |
| ENST00000493452.5:c.6743T>C (FLNB) | ENSP00000418510.1:p.Met2248Thr | |
| NM_001164317.1:c.7415T>C (FLNB) | NP_001157789.1:p.Met2472Thr | |
| NM_001164318.1:c.7289T>C (FLNB) | NP_001157790.1:p.Met2430Thr | |
| NM_001164319.1:c.7250T>C (FLNB) | NP_001157791.1:p.Met2417Thr | |
| NM_001457.3:c.7322T>C (FLNB) | NP_001448.2:p.Met2441Thr | |
| XM_005264977.1:c.7382T>C (FLNB) | XP_005265034.1:p.Met2461Thr | |
| XM_005264978.1:c.7343T>C (FLNB) | XP_005265035.1:p.Met2448Thr | |
| XR_940875.1:n.139+1934A>G (FLNB-AS1) | ||
| NR_135534.1:n.139+1934A>G (FLNB-AS1) | ||
| XM_005264978.2:c.7343T>C (FLNB) | XP_005265035.1:p.Met2448Thr | |
| XR_001740065.1:n.7630T>C (FLNB) | ||
| NM_001164317.2:c.7415T>C (FLNB) | NP_001157789.1:p.Met2472Thr | |
| NM_001164318.2:c.7289T>C (FLNB) | NP_001157790.1:p.Met2430Thr | |
| NM_001164319.2:c.7250T>C (FLNB) | NP_001157791.1:p.Met2417Thr | |
| NM_001457.4:c.7322T>C (FLNB) MANE Select | NP_001448.2:p.Met2441Thr |