HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872505G>T , CM000673.2:g.124872505G>T | GRCh38 |
NC_000011.9:g.124742401G>T , CM000673.1:g.124742401G>T | GRCh37 |
NC_000011.8:g.124247611G>T | NCBI36 |
NG_016214.1:g.12097G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1283G>T MANE Select | ENSP00000380903.1:p.Ser428Ile | |
ENST00000397801.5:c.1283G>T | ENSP00000380903.1:p.Ser428Ile | |
ENST00000538940.5:c.1217G>T | ENSP00000441797.1:p.Ser406Ile | |
NM_022370.3:c.1283G>T | NP_071765.2:p.Ser428Ile | |
XM_011542953.1:c.2255G>T | XP_011541255.1:p.Ser752Ile | |
XM_017018122.1:c.1217G>T | XP_016873611.1:p.Ser406Ile | |
NM_022370.4:c.1283G>T MANE Select | NP_071765.2:p.Ser428Ile |