HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529443T>G , CM000685.2:g.74529443T>G | GRCh38 |
NC_000023.10:g.73749278T>G , CM000685.1:g.73749278T>G | GRCh37 |
NC_000023.9:g.73666003T>G | NCBI36 |
NG_011641.1:g.113194T>G | |
NG_011641.2:g.113194T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.1399+2T>G MANE Select | ENSP00000465734.1:n.1399+2T>G | |
ENST00000636771.1:c.1308+2T>G | ||
ENST00000587091.5:c.1399+2T>G | ENSP00000465734.1:n.1399+2T>G | |
ENST00000590447.1:c.611-1890T>G | ||
NM_006517.4:c.1399+2T>G | NP_006508.2:n.1399+2T>G | |
XM_005262294.1:c.1171-1890T>G | XP_005262351.1:n.1171-1890T>G | |
NM_006517.5:c.1399+2T>G MANE Select | NP_006508.2:n.1399+2T>G |