HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075643A>C , CM000679.2:g.8075643A>C | GRCh38 |
NC_000017.10:g.7978961A>C , CM000679.1:g.7978961A>C | GRCh37 |
NC_000017.9:g.7919686A>C | NCBI36 |
NG_007099.1:g.17061T>G | |
NG_007099.2:g.17074T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1606T>G MANE Select | ENSP00000497784.1:p.Trp536Gly | |
ENST00000649809.1:c.670T>G | ENSP00000496845.1:p.Trp224Gly | |
ENST00000319144.4:c.1606T>G | ENSP00000315167.4:p.Trp536Gly | |
ENST00000577351.5:n.479+532T>G | ||
NM_001139.2:c.1606T>G | NP_001130.1:p.Trp536Gly | |
NM_001139.3:c.1606T>G MANE Select | NP_001130.1:p.Trp536Gly |