HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38253116T>G , CM000677.2:g.38253116T>G | GRCh38 |
NC_000015.9:g.38545317T>G , CM000677.1:g.38545317T>G | GRCh37 |
NC_000015.8:g.36332609T>G | NCBI36 |
NG_008980.1:g.5266T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.-70T>G MANE Select | ENSP00000299084.4:n.-70T>G | |
ENST00000299084.8:c.-70T>G | ENSP00000299084.4:n.-70T>G | |
ENST00000561205.1:n.269T>G | ||
NM_152594.2:c.-70T>G | NP_689807.1:n.-70T>G | |
XM_005254202.2:c.-70T>G | XP_005254259.1:n.-70T>G | |
XM_005254203.3:c.-117T>G | XP_005254260.1:n.-117T>G | |
XM_005254202.3:c.-70T>G | XP_005254259.1:n.-70T>G | |
XR_001751484.1:n.87+451A>C | ||
NM_152594.3:c.-70T>G MANE Select | NP_689807.1:n.-70T>G |