HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762633C>G , CM000668.2:g.34762633C>G | GRCh38 |
NC_000006.11:g.34730410C>G , CM000668.1:g.34730410C>G | GRCh37 |
NC_000006.10:g.34838388C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.90C>G MANE Select | ENSP00000244520.5:p.His30Gln | |
ENST00000244520.9:c.90C>G | ENSP00000244520.5:p.His30Gln | |
ENST00000374017.3:c.153C>G | ENSP00000363129.3:p.His51Gln | |
ENST00000374018.5:c.-34C>G | ENSP00000363130.1:n.-34C>G | |
ENST00000474635.1:n.82C>G | ||
NM_003093.2:c.90C>G | NP_003084.1:p.His30Gln | |
NR_029472.1:n.497C>G | ||
NM_003093.3:c.90C>G MANE Select | NP_003084.1:p.His30Gln | |
NR_029472.2:n.86C>G |