HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54465686G>A , CM000685.2:g.54465686G>A | GRCh38 |
NC_000023.10:g.54492119G>A , CM000685.1:g.54492119G>A | GRCh37 |
NC_000023.9:g.54508844G>A | NCBI36 |
NG_008054.1:g.35481C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.1497+10C>T MANE Select | ENSP00000364277.3:n.1497+10C>T | |
ENST00000375135.3:c.1497+10C>T | ENSP00000364277.3:n.1497+10C>T | |
NM_004463.2:c.1497+10C>T | NP_004454.2:n.1497+10C>T | |
NM_004463.3:c.1497+10C>T MANE Select | NP_004454.2:n.1497+10C>T |