HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55125582T>C , CM000666.2:g.55125582T>C | GRCh38 |
NC_000004.11:g.55991749T>C , CM000666.1:g.55991749T>C | GRCh37 |
NC_000004.10:g.55686506T>C | NCBI36 |
NG_012004.1:g.5014A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.-289A>G MANE Select | ENSP00000263923.4:n.-289A>G | |
ENST00000263923.4:c.-289A>G | ENSP00000263923.4:n.-289A>G | |
NM_002253.2:c.-289A>G | NP_002244.1:n.-289A>G | |
NM_002253.3:c.-289A>G | NP_002244.1:n.-289A>G | |
NM_002253.4:c.-289A>G MANE Select | NP_002244.1:n.-289A>G |