HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271328T>G , CM000668.2:g.31271328T>G | GRCh38 |
NC_000006.11:g.31239105T>G , CM000668.1:g.31239105T>G | GRCh37 |
NC_000006.10:g.31347084T>G | NCBI36 |
NG_029422.2:g.5804A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.364A>C MANE Select | ENSP00000365402.5:p.Met122Leu | |
ENST00000376228.9:c.364A>C | ENSP00000365402.5:p.Met122Leu | |
ENST00000376237.8:c.347A>C | ENSP00000365412.4:p.Asp116Ala | |
ENST00000383329.7:c.364A>C | ENSP00000372819.3:p.Met122Leu | |
ENST00000415537.1:c.362A>C | ||
ENST00000484378.1:n.633A>C | ||
ENST00000487245.5:n.723A>C | ||
ENST00000495835.1:n.553A>C | ||
NM_002117.5:c.364A>C | NP_002108.4:p.Met122Leu | |
NM_002117.6:c.364A>C MANE Select | NP_002108.4:p.Met122Leu |