HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193122121G>C , CM000663.2:g.193122121G>C | GRCh38 |
NC_000001.10:g.193091251G>C , CM000663.1:g.193091251G>C | GRCh37 |
NC_000001.9:g.191357874G>C | NCBI36 |
NG_012691.1:g.5164G>C , LRG_507:g.5164G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367435.5:c.-80G>C MANE Select | ENSP00000356405.4:n.-80G>C | |
ENST00000643006.1:c.-80G>C | ENSP00000496633.1:n.-80G>C | |
ENST00000649895.1:n.139G>C | ||
ENST00000650197.1:c.-80G>C | ENSP00000496929.1:n.-80G>C | |
ENST00000367435.3:c.-80G>C | ENSP00000356405.3:n.-80G>C | |
NM_024529.4:c.-80G>C , LRG_507t1:c.-80G>C | NP_078805.3:n.-80G>C | |
XM_006711537.2:c.-80G>C | XP_006711600.1:n.-80G>C | |
XM_006711537.4:c.-80G>C | XP_006711600.1:n.-80G>C | |
XR_001738350.1:n.1536C>G | ||
NM_024529.5:c.-80G>C MANE Select | NP_078805.3:n.-80G>C |