HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56042175T>G , CM000674.2:g.56042175T>G | GRCh38 |
NC_000012.11:g.56435959T>G , CM000674.1:g.56435959T>G | GRCh37 |
NC_000012.10:g.54722226T>G | NCBI36 |
NG_023201.1:g.5274T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.3+6T>G | ENSP00000348849.5:n.3+6T>G | |
ENST00000646449.2:c.3+6T>G MANE Select | ENSP00000496643.1:n.3+6T>G | |
ENST00000356464.9:c.3+6T>G | ENSP00000348849.5:n.3+6T>G | |
ENST00000548590.1:n.30+6T>G | ||
ENST00000552361.1:c.3+6T>G | ENSP00000450339.1:n.3+6T>G | |
NM_001029.3:c.3+6T>G | NP_001020.2:n.3+6T>G | |
NM_001029.5:c.3+6T>G MANE Select | NP_001020.2:n.3+6T>G |