HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872507G>C , CM000673.2:g.124872507G>C | GRCh38 |
NC_000011.9:g.124742403G>C , CM000673.1:g.124742403G>C | GRCh37 |
NC_000011.8:g.124247613G>C | NCBI36 |
NG_016214.1:g.12099G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1285G>C MANE Select | ENSP00000380903.1:p.Val429Leu | |
ENST00000397801.5:c.1285G>C | ENSP00000380903.1:p.Val429Leu | |
ENST00000538940.5:c.1219G>C | ENSP00000441797.1:p.Val407Leu | |
NM_022370.3:c.1285G>C | NP_071765.2:p.Val429Leu | |
XM_011542953.1:c.2257G>C | XP_011541255.1:p.Val753Leu | |
XM_017018122.1:c.1219G>C | XP_016873611.1:p.Val407Leu | |
NM_022370.4:c.1285G>C MANE Select | NP_071765.2:p.Val429Leu |