HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612756A>G , CM000679.2:g.41612756A>G | GRCh38 |
NC_000017.10:g.39769008A>G , CM000679.1:g.39769008A>G | GRCh37 |
NC_000017.9:g.37022534A>G | NCBI36 |
NG_008301.1:g.5072T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.-68T>C MANE Select | ENSP00000301653.3:n.-68T>C | |
ENST00000588319.1:n.10T>C | ||
ENST00000590990.1:c.-36-32T>C | ENSP00000467105.1:n.-36-32T>C | |
ENST00000593067.1:c.-313+34T>C | ENSP00000467124.1:n.-313+34T>C | |
NM_005557.3:c.-68T>C | NP_005548.2:n.-68T>C | |
NM_005557.4:c.-68T>C MANE Select | NP_005548.2:n.-68T>C |