HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38356539T>G , CM000677.2:g.38356539T>G | GRCh38 |
NC_000015.9:g.38648740T>G , CM000677.1:g.38648740T>G | GRCh37 |
NC_000015.8:g.36436032T>G | NCBI36 |
NG_008980.1:g.108689T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299084.9:c.*4875T>G MANE Select | ENSP00000299084.4:n.*4875T>G | |
ENST00000299084.8:c.*4875T>G | ENSP00000299084.4:n.*4875T>G | |
NM_152594.2:c.*4875T>G | NP_689807.1:n.*4875T>G | |
XM_005254202.3:c.*4875T>G | XP_005254259.1:n.*4875T>G | |
XM_011521289.3:c.*4875T>G | XP_011519591.1:n.*4875T>G | |
NM_152594.3:c.*4875T>G MANE Select | NP_689807.1:n.*4875T>G |