HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659399G= , CM000685.2:g.136659399G= | GRCh38 |
NC_000023.10:g.135741558G= , CM000685.1:g.135741558G= | GRCh37 |
NC_000023.9:g.135569224G= | NCBI36 |
NG_007280.1:g.16223G= , LRG_141:g.16223G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*388G= | ENSP00000512122.1:n.*388G= | |
ENST00000695725.1:c.*325G= | ENSP00000512123.1:n.*325G= | |
ENST00000695726.1:n.2738G= | ||
ENST00000695729.1:n.3573G= | ||
ENST00000370629.7:c.770G= MANE Select | ENSP00000359663.2:p.Gly257= | |
ENST00000370628.2:c.707G= | ENSP00000359662.2:p.Gly236= | |
ENST00000370629.6:c.770G= | ENSP00000359663.2:p.Gly257= | |
NM_000074.2:c.770G= , LRG_141t1:c.770G= | NP_000065.1:p.Gly257= | |
NM_000074.3:c.770G= MANE Select | NP_000065.1:p.Gly257= |