HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893210G>C , CM000664.2:g.218893210G>C | GRCh38 |
NC_000002.11:g.219757932G>C , CM000664.1:g.219757932G>C | GRCh37 |
NC_000002.10:g.219466176G>C | NCBI36 |
NG_012179.1:g.17678G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.1193G>C MANE Select | ENSP00000258411.3:p.Trp398Ser | |
ENST00000258411.7:c.1193G>C | ENSP00000258411.3:p.Trp398Ser | |
NM_025216.2:c.1193G>C | NP_079492.2:p.Trp398Ser | |
XM_011511928.1:c.1142G>C | XP_011510230.1:p.Trp381Ser | |
XM_011511929.1:c.1097G>C | XP_011510231.1:p.Trp366Ser | |
XM_011511930.1:c.813G>C | XP_011510232.1:p.Leu271= | |
XM_011511929.2:c.1097G>C | XP_011510231.1:p.Trp366Ser | |
NM_025216.3:c.1193G>C MANE Select | NP_079492.2:p.Trp398Ser |