HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659221C= , CM000685.2:g.136659221C= | GRCh38 |
NC_000023.10:g.135741380C= , CM000685.1:g.135741380C= | GRCh37 |
NC_000023.9:g.135569046C= | NCBI36 |
NG_007280.1:g.16045C= , LRG_141:g.16045C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*210C= | ENSP00000512122.1:n.*210C= | |
ENST00000695725.1:c.*147C= | ENSP00000512123.1:n.*147C= | |
ENST00000695726.1:n.2560C= | ||
ENST00000695729.1:n.3395C= | ||
ENST00000370629.7:c.592C= MANE Select | ENSP00000359663.2:p.Pro198= | |
ENST00000370628.2:c.529C= | ENSP00000359662.2:p.Pro177= | |
ENST00000370629.6:c.592C= | ENSP00000359663.2:p.Pro198= | |
NM_000074.2:c.592C= , LRG_141t1:c.592C= | NP_000065.1:p.Pro198= | |
NM_000074.3:c.592C= MANE Select | NP_000065.1:p.Pro198= |