HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6096900A>C , CM000682.2:g.6096900A>C | GRCh38 |
NC_000020.10:g.6077547A>C , CM000682.1:g.6077547A>C | GRCh37 |
NC_000020.9:g.6025547A>C | NCBI36 |
NG_016213.1:g.31645T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000699095.1:c.1089+2T>G | ENSP00000514127.1:n.1089+2T>G | |
ENST00000699096.1:n.1551+2T>G | ||
ENST00000699097.1:n.261T>G | ||
ENST00000217289.9:c.1089+2T>G MANE Select | ENSP00000217289.4:n.1089+2T>G | |
ENST00000217289.8:c.1089+2T>G | ENSP00000217289.4:n.1089+2T>G | |
ENST00000536936.1:c.318+2T>G | ENSP00000441063.1:n.318+2T>G | |
NM_017671.4:c.1089+2T>G | NP_060141.3:n.1089+2T>G | |
XM_024451935.1:c.1089+2T>G | XP_024307703.1:n.1089+2T>G | |
NM_017671.5:c.1089+2T>G MANE Select | NP_060141.3:n.1089+2T>G |