HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029838A>G , CM000666.2:g.52029838A>G | GRCh38 |
NC_000004.11:g.52896004A>G , CM000666.1:g.52896004A>G | GRCh37 |
NC_000004.10:g.52590761A>G | NCBI36 |
NG_008891.1:g.13482T>C , LRG_204:g.13482T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.269T>C MANE Select | ENSP00000370839.6:p.Ile90Thr | |
ENST00000381431.9:c.269T>C | ENSP00000370839.5:p.Ile90Thr | |
ENST00000506357.5:c.352T>C | ||
ENST00000514133.1:c.346T>C | ENSP00000425818.1:n.346T>C | |
NM_000232.4:c.269T>C , LRG_204t1:c.269T>C | NP_000223.1:p.Ile90Thr | |
XM_006714049.2:c.-29T>C | XP_006714112.1:n.-29T>C | |
XM_011534403.1:c.59T>C | XP_011532705.1:p.Ile20Thr | |
XM_011534404.1:c.-29T>C | XP_011532706.1:n.-29T>C | |
NM_000232.5:c.269T>C MANE Select | NP_000223.1:p.Ile90Thr |