HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42130882A>C , CM000684.2:g.42130882A>C | GRCh38 |
NC_000022.10:g.42526884A>C , CM000684.1:g.42526884A>C | GRCh37 |
NC_000022.9:g.40856828A>C | NCBI36 |
NG_008376.3:g.4110T>G | |
NG_008376.4:g.4929T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360608.9:c.-91T>G | ENSP00000353820.5:n.-91T>G | |
XM_011529966.1:c.-91T>G | XP_011528268.1:n.-91T>G | |
XM_011529967.1:c.-91T>G | XP_011528269.1:n.-91T>G | |
XM_011529968.1:c.-91T>G | XP_011528270.1:n.-91T>G | |
XM_011529969.1:c.37+415T>G | XP_011528271.1:n.37+415T>G | |
XM_011529970.1:c.-91T>G | XP_011528272.1:n.-91T>G | |
XM_011529971.1:c.37+415T>G | XP_011528273.1:n.37+415T>G | |
XM_011529972.1:c.-91T>G | XP_011528274.1:n.-91T>G | |
XR_430455.2:n.328+194A>C | ||
XR_002958749.1:n.275+194A>C |