HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058887G= , CM000664.2:g.189058887G= | GRCh38 |
NC_000002.11:g.189923613G= , CM000664.1:g.189923613G= | GRCh37 |
NC_000002.10:g.189631858G= | NCBI36 |
NG_011799.1:g.125993C= | |
NG_011799.2:g.125993C= | |
NG_011799.3:g.171415C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2092C= MANE Select | ENSP00000364000.3:p.Pro698= | |
ENST00000374866.7:c.2092C= | ENSP00000364000.3:p.Pro698= | |
ENST00000470524.2:n.198C= | ||
ENST00000618828.1:c.931C= | ENSP00000482184.1:p.Pro311= | |
NM_000393.3:c.2092C= | NP_000384.2:p.Pro698= | |
XM_011510573.1:c.1954C= | XP_011508875.1:p.Pro652= | |
NM_000393.4:c.2092C= | NP_000384.2:p.Pro698= | |
XM_011510573.3:c.1954C= | XP_011508875.1:p.Pro652= | |
NM_000393.5:c.2092C= MANE Select | NP_000384.2:p.Pro698= |