HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612700G>C , CM000679.2:g.41612700G>C | GRCh38 |
NC_000017.10:g.39768952G>C , CM000679.1:g.39768952G>C | GRCh37 |
NC_000017.9:g.37022478G>C | NCBI36 |
NG_008301.1:g.5128C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.-12C>G MANE Select | ENSP00000301653.3:n.-12C>G | |
ENST00000301653.8:c.-12C>G | ENSP00000301653.3:n.-12C>G | |
ENST00000588319.1:n.66C>G | ||
ENST00000590990.1:c.-12C>G | ENSP00000467105.1:n.-12C>G | |
ENST00000593067.1:c.-313+90C>G | ENSP00000467124.1:n.-313+90C>G | |
NM_005557.3:c.-12C>G | NP_005548.2:n.-12C>G | |
NM_005557.4:c.-12C>G MANE Select | NP_005548.2:n.-12C>G |