HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271469T>C , CM000668.2:g.31271469T>C | GRCh38 |
NC_000006.11:g.31239246T>C , CM000668.1:g.31239246T>C | GRCh37 |
NC_000006.10:g.31347225T>C | NCBI36 |
NG_029422.2:g.5663A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.344-121A>G MANE Select | ENSP00000365402.5:n.344-121A>G | |
ENST00000376228.9:c.344-121A>G | ENSP00000365402.5:n.344-121A>G | |
ENST00000376237.8:c.343+130A>G | ENSP00000365412.4:n.343+130A>G | |
ENST00000383329.7:c.344-121A>G | ENSP00000372819.3:n.344-121A>G | |
ENST00000415537.1:c.342-121A>G | ||
ENST00000484378.1:n.492A>G | ||
ENST00000487245.5:n.582A>G | ||
ENST00000495835.1:n.533-121A>G | ||
NM_002117.5:c.344-121A>G | NP_002108.4:n.344-121A>G | |
NM_002117.6:c.344-121A>G MANE Select | NP_002108.4:n.344-121A>G |