HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63959172T>C , CM000679.2:g.63959172T>C | GRCh38 |
NC_000017.10:g.62036532T>C , CM000679.1:g.62036532T>C | GRCh37 |
NC_000017.9:g.59390264T>C | NCBI36 |
NG_011699.1:g.18747A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.2019+93A>G MANE Select | ENSP00000396320.1:n.2019+93A>G | |
ENST00000578147.5:c.2019+93A>G | ENSP00000463963.1:n.2019+93A>G | |
NM_000334.4:c.2019+93A>G MANE Select | NP_000325.4:n.2019+93A>G | |
XM_005257566.3:c.2019+93A>G | XP_005257623.1:n.2019+93A>G |