HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659274C>T , CM000685.2:g.136659274C>T | GRCh38 |
NC_000023.10:g.135741433C>T , CM000685.1:g.135741433C>T | GRCh37 |
NC_000023.9:g.135569099C>T | NCBI36 |
NG_007280.1:g.16098C>T , LRG_141:g.16098C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*263C>T | ENSP00000512122.1:n.*263C>T | |
ENST00000695725.1:c.*200C>T | ENSP00000512123.1:n.*200C>T | |
ENST00000695726.1:n.2613C>T | ||
ENST00000695729.1:n.3448C>T | ||
ENST00000370629.7:c.645C>T MANE Select | ENSP00000359663.2:p.Ala215= | |
ENST00000370628.2:c.582C>T | ENSP00000359662.2:p.Ala194= | |
ENST00000370629.6:c.645C>T | ENSP00000359663.2:p.Ala215= | |
NM_000074.2:c.645C>T , LRG_141t1:c.645C>T | NP_000065.1:p.Ala215= | |
NM_000074.3:c.645C>T MANE Select | NP_000065.1:p.Ala215= |