HGVS | Genome Assembly |
---|---|
NC_000002.12:g.74145272T>A , CM000664.2:g.74145272T>A | GRCh38 |
NC_000002.11:g.74372399T>A , CM000664.1:g.74372399T>A | GRCh37 |
NC_000002.10:g.74225907T>A | NCBI36 |
NG_031910.1:g.7641A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327428.10:c.86A>T MANE Select | ENSP00000331369.5:p.Gln29Leu | |
ENST00000295326.4:c.86A>T | ENSP00000295326.4:p.Gln29Leu | |
ENST00000327428.9:c.86A>T | ENSP00000331369.5:p.Gln29Leu | |
ENST00000469676.1:n.1109A>T | ||
ENST00000477685.5:n.237A>T | ||
ENST00000484655.1:n.2641A>T | ||
NM_001035505.1:c.86A>T | NP_001030582.1:p.Gln29Leu | |
NM_212552.2:c.86A>T | NP_997717.2:p.Gln29Leu | |
NM_212552.3:c.86A>T MANE Select | NP_997717.2:p.Gln29Leu | |
NM_001035505.2:c.86A>T | NP_001030582.1:p.Gln29Leu |