HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271326C>G , CM000668.2:g.31271326C>G | GRCh38 |
NC_000006.11:g.31239103C>G , CM000668.1:g.31239103C>G | GRCh37 |
NC_000006.10:g.31347082C>G | NCBI36 |
NG_029422.2:g.5806G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.366G>C MANE Select | ENSP00000365402.5:p.Met122Ile | |
ENST00000376228.9:c.366G>C | ENSP00000365402.5:p.Met122Ile | |
ENST00000376237.8:c.349G>C | ENSP00000365412.4:p.Val117Leu | |
ENST00000383329.7:c.366G>C | ENSP00000372819.3:p.Met122Ile | |
ENST00000415537.1:c.364G>C | ||
ENST00000484378.1:n.635G>C | ||
ENST00000487245.5:n.725G>C | ||
ENST00000495835.1:n.555G>C | ||
NM_002117.5:c.366G>C | NP_002108.4:p.Met122Ile | |
NM_002117.6:c.366G>C MANE Select | NP_002108.4:p.Met122Ile |