HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128857206G>T , CM000669.2:g.128857206G>T | GRCh38 |
NC_000007.13:g.128497260G>T , CM000669.1:g.128497260G>T | GRCh37 |
NC_000007.12:g.128284496G>T | NCBI36 |
NG_011807.1:g.31778G>T , LRG_870:g.31778G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.7650G>T (FLNC) MANE Select | ENSP00000327145.8:p.Leu2550= | |
ENST00000325888.12:c.7650G>T (FLNC) | ENSP00000327145.8:p.Leu2550= | |
ENST00000346177.6:c.7551G>T (FLNC) | ENSP00000344002.6:p.Leu2517= | |
NM_001127487.1:c.7551G>T (FLNC) | NP_001120959.1:p.Leu2517= | |
NM_001458.4:c.7650G>T , LRG_870t1:c.7650G>T (FLNC) | NP_001449.3:p.Leu2550= | |
NR_149055.1:n.103-3809C>A (FLNC-AS1) | ||
NM_001127487.2:c.7551G>T (FLNC) | NP_001120959.1:p.Leu2517= | |
NM_001458.5:c.7650G>T (FLNC) MANE Select | NP_001449.3:p.Leu2550= |