HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128852997G>A , CM000669.2:g.128852997G>A | GRCh38 |
NC_000007.13:g.128493051G>A , CM000669.1:g.128493051G>A | GRCh37 |
NC_000007.12:g.128280287G>A | NCBI36 |
NG_011807.1:g.27569G>A , LRG_870:g.27569G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.6174G>A (FLNC) MANE Select | ENSP00000327145.8:p.Gln2058= | |
ENST00000325888.12:c.6174G>A (FLNC) | ENSP00000327145.8:p.Gln2058= | |
ENST00000346177.6:c.6075G>A (FLNC) | ENSP00000344002.6:p.Gln2025= | |
NM_001127487.1:c.6075G>A (FLNC) | NP_001120959.1:p.Gln2025= | |
NM_001458.4:c.6174G>A , LRG_870t1:c.6174G>A (FLNC) | NP_001449.3:p.Gln2058= | |
NR_149055.1:n.215+288C>T (FLNC-AS1) | ||
NM_001127487.2:c.6075G>A (FLNC) | NP_001120959.1:p.Gln2025= | |
NM_001458.5:c.6174G>A (FLNC) MANE Select | NP_001449.3:p.Gln2058= |