HGVS | Genome Assembly |
---|---|
NC_000018.10:g.9109486T>G , CM000680.2:g.9109486T>G | GRCh38 |
NC_000018.9:g.9109484T>G , CM000680.1:g.9109484T>G | GRCh37 |
NC_000018.8:g.9099484T>G | NCBI36 |
NG_013355.1:g.11857T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318388.11:c.54+6689T>G MANE Select | ENSP00000327268.6:n.54+6689T>G | |
ENST00000318388.10:c.54+6689T>G | ENSP00000327268.6:n.54+6689T>G | |
ENST00000400033.1:c.63+4507T>G | ENSP00000382908.1:n.63+4507T>G | |
ENST00000577703.1:c.*570+6053T>G | ENSP00000461911.1:n.*570+6053T>G | |
ENST00000583375.5:n.145+6524T>G | ||
NM_021074.4:c.54+6689T>G | NP_066552.2:n.54+6689T>G | |
XR_243808.1:n.156+6689T>G | ||
XR_002958175.1:n.156+6689T>G | ||
XR_243808.3:n.71+6689T>G | ||
NM_021074.5:c.54+6689T>G MANE Select | NP_066552.2:n.54+6689T>G |