Linked Data
ClinVar Variation Id:
648299
ClinVar RCV Id:
RCV000803002
dbSNP Id:
rs931678640
gnomAD v4:
7-128857235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857235T>C , CM000669.2:g.128857235T>C | GRCh38 |
| NC_000007.13:g.128497289T>C , CM000669.1:g.128497289T>C | GRCh37 |
| NC_000007.12:g.128284525T>C | NCBI36 |
| NG_011807.1:g.31807T>C , LRG_870:g.31807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7679T>C (FLNC) MANE Select | ENSP00000327145.8:p.Val2560Ala | |
| ENST00000325888.12:c.7679T>C (FLNC) | ENSP00000327145.8:p.Val2560Ala | |
| ENST00000346177.6:c.7580T>C (FLNC) | ENSP00000344002.6:p.Val2527Ala | |
| NM_001127487.1:c.7580T>C (FLNC) | NP_001120959.1:p.Val2527Ala | |
| NM_001458.4:c.7679T>C , LRG_870t1:c.7679T>C (FLNC) | NP_001449.3:p.Val2560Ala | |
| NR_149055.1:n.103-3838A>G (FLNC-AS1) | ||
| NM_001127487.2:c.7580T>C (FLNC) | NP_001120959.1:p.Val2527Ala | |
| NM_001458.5:c.7679T>C (FLNC) MANE Select | NP_001449.3:p.Val2560Ala |