HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659477C= , CM000685.2:g.136659477C= | GRCh38 |
NC_000023.10:g.135741636C= , CM000685.1:g.135741636C= | GRCh37 |
NC_000023.9:g.135569302C= | NCBI36 |
NG_007280.1:g.16301C= , LRG_141:g.16301C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*466C= | ENSP00000512122.1:n.*466C= | |
ENST00000695725.1:c.*403C= | ENSP00000512123.1:n.*403C= | |
ENST00000695726.1:n.2816C= | ||
ENST00000695729.1:n.3651C= | ||
ENST00000370629.7:c.*62C= MANE Select | ENSP00000359663.2:n.*62C= | |
ENST00000370628.2:c.*62C= | ENSP00000359662.2:n.*62C= | |
ENST00000370629.6:c.*62C= | ENSP00000359663.2:n.*62C= | |
NM_000074.2:c.*62C= , LRG_141t1:c.*62C= | NP_000065.1:n.*62C= | |
NM_000074.3:c.*62C= MANE Select | NP_000065.1:n.*62C= |