HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193251960G>C , CM000663.2:g.193251960G>C | GRCh38 |
NC_000001.10:g.193221090G>C , CM000663.1:g.193221090G>C | GRCh37 |
NC_000001.9:g.191487713G>C | NCBI36 |
NG_012691.1:g.135003G>C , LRG_507:g.135003G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367435.5:c.*1248G>C MANE Select | ENSP00000356405.4:n.*1248G>C | |
ENST00000635846.1:c.*1248G>C | ENSP00000490035.1:n.*1248G>C | |
ENST00000643006.1:c.*1754G>C | ENSP00000496633.1:n.*1754G>C | |
ENST00000367435.3:c.*1248G>C | ENSP00000356405.3:n.*1248G>C | |
NM_024529.4:c.*1248G>C , LRG_507t1:c.*1248G>C | NP_078805.3:n.*1248G>C | |
NM_024529.5:c.*1248G>C MANE Select | NP_078805.3:n.*1248G>C |