HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48528206C>T , CM000685.2:g.48528206C>T | GRCh38 |
NC_000023.10:g.48386594C>T , CM000685.1:g.48386594C>T | GRCh37 |
NC_000023.9:g.48271538C>T | NCBI36 |
NG_007452.1:g.11431C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000495186.6:c.470-28C>T MANE Select | ENSP00000417052.1:n.470-28C>T | |
ENST00000651615.1:c.469+921C>T | ENSP00000498524.1:n.469+921C>T | |
ENST00000276096.10:n.428-28C>T | ||
ENST00000446158.5:c.470-28C>T | ENSP00000390031.1:n.470-28C>T | |
ENST00000495186.5:c.470-28C>T | ENSP00000417052.1:n.470-28C>T | |
ENST00000498425.1:n.591-28C>T | ||
NM_006579.2:c.470-28C>T | NP_006570.1:n.470-28C>T | |
NM_006579.3:c.470-28C>T MANE Select | NP_006570.1:n.470-28C>T |