HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572916G>C , CM000685.2:g.47572916G>C | GRCh38 |
NC_000023.10:g.47432315G>C , CM000685.1:g.47432315G>C | GRCh37 |
NC_000023.9:g.47317259G>C | NCBI36 |
NG_008437.1:g.51942C>G | |
NG_016339.1:g.16800G>C | |
NG_016339.2:g.16800G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2066C>G MANE Select | ENSP00000295987.7:p.Ala689Gly | |
ENST00000340666.5:c.*18C>G | ENSP00000343206.4:n.*18C>G | |
ENST00000640721.1:c.116C>G | ENSP00000492857.1:p.Ala39Gly | |
ENST00000295987.11:c.2066C>G | ENSP00000295987.7:p.Ala689Gly | |
ENST00000340666.4:c.*18C>G | ENSP00000343206.4:n.*18C>G | |
NM_006950.3:c.2066C>G MANE Select | NP_008881.2:p.Ala689Gly | |
NM_133499.2:c.*18C>G | NP_598006.1:n.*18C>G |