HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659400C>T , CM000685.2:g.136659400C>T | GRCh38 |
NC_000023.10:g.135741559C>T , CM000685.1:g.135741559C>T | GRCh37 |
NC_000023.9:g.135569225C>T | NCBI36 |
NG_007280.1:g.16224C>T , LRG_141:g.16224C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*389C>T | ENSP00000512122.1:n.*389C>T | |
ENST00000695725.1:c.*326C>T | ENSP00000512123.1:n.*326C>T | |
ENST00000695726.1:n.2739C>T | ||
ENST00000695729.1:n.3574C>T | ||
ENST00000370629.7:c.771C>T MANE Select | ENSP00000359663.2:p.Gly257= | |
ENST00000370628.2:c.708C>T | ENSP00000359662.2:p.Gly236= | |
ENST00000370629.6:c.771C>T | ENSP00000359663.2:p.Gly257= | |
NM_000074.2:c.771C>T , LRG_141t1:c.771C>T | NP_000065.1:p.Gly257= | |
NM_000074.3:c.771C>T MANE Select | NP_000065.1:p.Gly257= |