Linked Data
ClinVar Variation Id:
385717
ClinVar RCV Id:
RCV000578087
RCV000527428
RCV000578034
RCV000577974
RCV001083558
RCV002356571
RCV003486835
RCV003902565
dbSNP Id:
rs201333104
ExAC:
7:128493052 G / A
gnomAD v2:
7-128493052-G-A
gnomAD v3:
7-128852998-G-A
gnomAD v4:
7-128852998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852998G>A , CM000669.2:g.128852998G>A | GRCh38 |
| NC_000007.13:g.128493052G>A , CM000669.1:g.128493052G>A | GRCh37 |
| NC_000007.12:g.128280288G>A | NCBI36 |
| NG_011807.1:g.27570G>A , LRG_870:g.27570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6175G>A (FLNC) MANE Select | ENSP00000327145.8:p.Val2059Met | |
| ENST00000325888.12:c.6175G>A (FLNC) | ENSP00000327145.8:p.Val2059Met | |
| ENST00000346177.6:c.6076G>A (FLNC) | ENSP00000344002.6:p.Val2026Met | |
| NM_001127487.1:c.6076G>A (FLNC) | NP_001120959.1:p.Val2026Met | |
| NM_001458.4:c.6175G>A , LRG_870t1:c.6175G>A (FLNC) | NP_001449.3:p.Val2059Met | |
| NR_149055.1:n.215+287C>T (FLNC-AS1) | ||
| NM_001127487.2:c.6076G>A (FLNC) | NP_001120959.1:p.Val2026Met | |
| NM_001458.5:c.6175G>A (FLNC) MANE Select | NP_001449.3:p.Val2059Met |