Linked Data
dbSNP Id:
rs760533029
ExAC:
7:128496622 C / G
gnomAD v2:
7-128496622-C-G
gnomAD v4:
7-128856568-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128856568C>G , CM000669.2:g.128856568C>G | GRCh38 |
| NC_000007.13:g.128496622C>G , CM000669.1:g.128496622C>G | GRCh37 |
| NC_000007.12:g.128283858C>G | NCBI36 |
| NG_011807.1:g.31140C>G , LRG_870:g.31140C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7302C>G (FLNC) MANE Select | ENSP00000327145.8:p.Asn2434Lys | |
| ENST00000325888.12:c.7302C>G (FLNC) | ENSP00000327145.8:p.Asn2434Lys | |
| ENST00000346177.6:c.7203C>G (FLNC) | ENSP00000344002.6:p.Asn2401Lys | |
| NM_001127487.1:c.7203C>G (FLNC) | NP_001120959.1:p.Asn2401Lys | |
| NM_001458.4:c.7302C>G , LRG_870t1:c.7302C>G (FLNC) | NP_001449.3:p.Asn2434Lys | |
| NR_149055.1:n.103-3171G>C (FLNC-AS1) | ||
| NM_001127487.2:c.7203C>G (FLNC) | NP_001120959.1:p.Asn2401Lys | |
| NM_001458.5:c.7302C>G (FLNC) MANE Select | NP_001449.3:p.Asn2434Lys |