HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308855G>A , CM000685.2:g.30308855G>A | GRCh38 |
NC_000023.10:g.30326972G>A , CM000685.1:g.30326972G>A | GRCh37 |
NC_000023.9:g.30236893G>A | NCBI36 |
NG_009814.1:g.5524C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.509C>T MANE Select | ENSP00000368253.4:p.Ala170Val | |
ENST00000378970.4:c.509C>T | ENSP00000368253.4:p.Ala170Val | |
NM_000475.4:c.509C>T | NP_000466.2:p.Ala170Val | |
NM_000475.5:c.509C>T MANE Select | NP_000466.2:p.Ala170Val |