HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304520G>T , CM000685.2:g.30304520G>T | GRCh38 |
NC_000023.10:g.30322637G>T , CM000685.1:g.30322637G>T | GRCh37 |
NC_000023.9:g.30232558G>T | NCBI36 |
NG_009814.1:g.9859C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.*59C>A MANE Select | ENSP00000368253.4:n.*59C>A | |
ENST00000378970.4:c.*59C>A | ENSP00000368253.4:n.*59C>A | |
NM_000475.4:c.*59C>A | NP_000466.2:n.*59C>A | |
NM_000475.5:c.*59C>A MANE Select | NP_000466.2:n.*59C>A |