HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713224G>C , CM000681.2:g.6713224G>C | GRCh38 |
NC_000019.9:g.6713235G>C , CM000681.1:g.6713235G>C | GRCh37 |
NC_000019.8:g.6664235G>C | NCBI36 |
NG_009557.1:g.12428C>G , LRG_27:g.12428C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.845C>G | ENSP00000512083.1:p.Ser282Cys | |
ENST00000695654.1:c.92C>G | ENSP00000512085.1:p.Ser31Cys | |
ENST00000695692.1:n.292C>G | ||
ENST00000245907.11:c.968C>G MANE Select | ENSP00000245907.4:p.Ser323Cys | |
ENST00000245907.10:c.968C>G | ENSP00000245907.4:p.Ser323Cys | |
ENST00000594270.5:n.92C>G | ||
ENST00000595577.1:n.472C>G | ||
ENST00000597442.5:n.218C>G | ||
NM_000064.3:c.968C>G | NP_000055.2:p.Ser323Cys | |
NM_000064.4:c.968C>G MANE Select | NP_000055.2:p.Ser323Cys |