HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39500597C>G , CM000681.2:g.39500597C>G | GRCh38 |
NC_000019.9:g.39991237C>G , CM000681.1:g.39991237C>G | GRCh37 |
NC_000019.8:g.44683077C>G | NCBI36 |
NG_008256.1:g.6681C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356433.10:c.352-18C>G MANE Select | ENSP00000348810.4:n.352-18C>G | |
ENST00000205143.4:c.352-18C>G | ENSP00000205143.3:n.352-18C>G | |
ENST00000356433.9:c.352-18C>G | ENSP00000348810.4:n.352-18C>G | |
ENST00000596614.5:c.352-18C>G | ENSP00000471688.1:n.352-18C>G | |
ENST00000600437.1:n.432-18C>G | ||
NM_016941.3:c.352-18C>G | NP_058637.1:n.352-18C>G | |
NM_203486.2:c.352-18C>G | NP_982353.1:n.352-18C>G | |
NM_016941.4:c.352-18C>G | NP_058637.1:n.352-18C>G | |
NM_203486.3:c.352-18C>G MANE Select | NP_982353.1:n.352-18C>G |