Linked Data
ClinVar Variation Id:
2428175
ClinVar RCV Id:
RCV003117146
dbSNP Id:
rs1214876372
gnomAD v2:
7-128493013-G-A
gnomAD v4:
7-128852959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128852959G>A , CM000669.2:g.128852959G>A | GRCh38 |
| NC_000007.13:g.128493013G>A , CM000669.1:g.128493013G>A | GRCh37 |
| NC_000007.12:g.128280249G>A | NCBI36 |
| NG_011807.1:g.27531G>A , LRG_870:g.27531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.6136G>A (FLNC) MANE Select | ENSP00000327145.8:p.Val2046Ile | |
| ENST00000325888.12:c.6136G>A (FLNC) | ENSP00000327145.8:p.Val2046Ile | |
| ENST00000346177.6:c.6037G>A (FLNC) | ENSP00000344002.6:p.Val2013Ile | |
| NM_001127487.1:c.6037G>A (FLNC) | NP_001120959.1:p.Val2013Ile | |
| NM_001458.4:c.6136G>A , LRG_870t1:c.6136G>A (FLNC) | NP_001449.3:p.Val2046Ile | |
| NR_149055.1:n.215+326C>T (FLNC-AS1) | ||
| NM_001127487.2:c.6037G>A (FLNC) | NP_001120959.1:p.Val2013Ile | |
| NM_001458.5:c.6136G>A (FLNC) MANE Select | NP_001449.3:p.Val2046Ile |