HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308858C>G , CM000685.2:g.30308858C>G | GRCh38 |
NC_000023.10:g.30326975C>G , CM000685.1:g.30326975C>G | GRCh37 |
NC_000023.9:g.30236896C>G | NCBI36 |
NG_009814.1:g.5521G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.506G>C MANE Select | ENSP00000368253.4:p.Gly169Ala | |
ENST00000378970.4:c.506G>C | ENSP00000368253.4:p.Gly169Ala | |
NM_000475.4:c.506G>C | NP_000466.2:p.Gly169Ala | |
NM_000475.5:c.506G>C MANE Select | NP_000466.2:p.Gly169Ala |