HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119086G>C , CM000664.2:g.176119086G>C | GRCh38 |
NC_000002.11:g.176983814G>C , CM000664.1:g.176983814G>C | GRCh37 |
NC_000002.10:g.176692060G>C | NCBI36 |
NG_008133.2:g.12323G>C , LRG_246:g.12323G>C | |
NG_009225.1:g.1402G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.878G>C MANE Select | ENSP00000249501.4:p.Arg293Pro | |
ENST00000249501.4:c.878G>C | ENSP00000249501.4:p.Arg293Pro | |
ENST00000490088.2:n.702G>C | ||
ENST00000549469.1:n.749G>C | ||
NM_002148.3:c.878G>C , LRG_246t1:c.878G>C | NP_002139.2:p.Arg293Pro | |
NM_002148.4:c.878G>C MANE Select | NP_002139.2:p.Arg293Pro |