HGVS | Genome Assembly |
---|---|
NC_000023.11:g.67545150G>C , CM000685.2:g.67545150G>C | GRCh38 |
NC_000023.10:g.66764992G>C , CM000685.1:g.66764992G>C | GRCh37 |
NC_000023.9:g.66681717G>C | NCBI36 |
NG_009014.2:g.6119G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396043.4:c.4G>C | ENSP00000379358.4:p.Glu2Gln | |
ENST00000374690.9:c.4G>C MANE Select | ENSP00000363822.3:p.Glu2Gln | |
ENST00000396044.8:c.4G>C | ENSP00000379359.3:p.Glu2Gln | |
ENST00000612452.5:c.4G>C | ENSP00000484033.2:p.Glu2Gln | |
ENST00000374690.7:c.4G>C | ENSP00000363822.3:p.Glu2Gln | |
ENST00000396044.7:c.4G>C | ENSP00000379359.3:p.Glu2Gln | |
ENST00000504326.5:c.4G>C | ENSP00000421155.1:p.Glu2Gln | |
ENST00000513847.5:n.331G>C | ||
ENST00000514029.5:c.4G>C | ENSP00000425199.1:p.Glu2Gln | |
ENST00000612010.4:c.4G>C | ENSP00000482407.1:p.Glu2Gln | |
ENST00000612452.4:c.-567G>C | ENSP00000484033.1:n.-567G>C | |
ENST00000613054.2:c.4G>C | ENSP00000479013.1:p.Glu2Gln | |
NM_000044.3:c.4G>C | NP_000035.2:p.Glu2Gln | |
NM_000044.4:c.4G>C | NP_000035.2:p.Glu2Gln | |
NM_001011645.3:c.-1780G>C | NP_001011645.1:n.-1780G>C | |
NM_001348061.1:c.4G>C | NP_001334990.1:p.Glu2Gln | |
NM_001348063.1:c.4G>C | NP_001334992.1:p.Glu2Gln | |
NM_001348064.1:c.4G>C | NP_001334993.1:p.Glu2Gln | |
NM_000044.6:c.4G>C MANE Select | NP_000035.2:p.Glu2Gln |