HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62999835G>T , CM000673.2:g.62999835G>T | GRCh38 |
NC_000011.9:g.62767307G>T , CM000673.1:g.62767307G>T | GRCh37 |
NC_000011.8:g.62523883G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336232.7:c.445C>A MANE Select | ENSP00000337335.2:p.Arg149Ser | |
ENST00000311438.12:c.445C>A | ENSP00000311463.8:p.Arg149Ser | |
ENST00000336232.6:c.445C>A | ENSP00000337335.2:p.Arg149Ser | |
ENST00000430500.6:c.445C>A | ENSP00000398548.2:p.Arg149Ser | |
ENST00000535878.5:c.76C>A | ENSP00000443368.1:p.Arg26Ser | |
ENST00000542795.5:n.166C>A | ||
ENST00000542904.1:n.285C>A | ||
ENST00000545207.5:c.172C>A | ENSP00000441658.1:p.Arg58Ser | |
NM_001184732.1:c.445C>A | NP_001171661.1:p.Arg149Ser | |
NM_001184733.1:c.172C>A | NP_001171662.1:p.Arg58Ser | |
NM_001184736.1:c.76C>A | NP_001171665.1:p.Arg26Ser | |
NM_004254.3:c.445C>A | NP_004245.2:p.Arg149Ser | |
XM_011545364.1:c.76C>A | XP_011543666.1:p.Arg26Ser | |
NM_004254.4:c.445C>A MANE Select | NP_004245.2:p.Arg149Ser | |
NM_001184732.2:c.445C>A | NP_001171661.1:p.Arg149Ser | |
NM_001184733.2:c.172C>A | NP_001171662.1:p.Arg58Ser | |
NM_001184736.2:c.76C>A | NP_001171665.1:p.Arg26Ser |