HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713281C>G , CM000681.2:g.6713281C>G | GRCh38 |
NC_000019.9:g.6713292C>G , CM000681.1:g.6713292C>G | GRCh37 |
NC_000019.8:g.6664292C>G | NCBI36 |
NG_009557.1:g.12371G>C , LRG_27:g.12371G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.788G>C | ENSP00000512083.1:p.Arg263Pro | |
ENST00000695654.1:c.35G>C | ENSP00000512085.1:p.Arg12Pro | |
ENST00000695692.1:n.235G>C | ||
ENST00000245907.11:c.911G>C MANE Select | ENSP00000245907.4:p.Arg304Pro | |
ENST00000245907.10:c.911G>C | ENSP00000245907.4:p.Arg304Pro | |
ENST00000594270.5:n.35G>C | ||
ENST00000595577.1:n.415G>C | ||
ENST00000597442.5:n.161G>C | ||
NM_000064.3:c.911G>C | NP_000055.2:p.Arg304Pro | |
NM_000064.4:c.911G>C MANE Select | NP_000055.2:p.Arg304Pro |