HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659434C>T , CM000685.2:g.136659434C>T | GRCh38 |
NC_000023.10:g.135741593C>T , CM000685.1:g.135741593C>T | GRCh37 |
NC_000023.9:g.135569259C>T | NCBI36 |
NG_007280.1:g.16258C>T , LRG_141:g.16258C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*423C>T | ENSP00000512122.1:n.*423C>T | |
ENST00000695725.1:c.*360C>T | ENSP00000512123.1:n.*360C>T | |
ENST00000695726.1:n.2773C>T | ||
ENST00000695729.1:n.3608C>T | ||
ENST00000370629.7:c.*19C>T MANE Select | ENSP00000359663.2:n.*19C>T | |
ENST00000370628.2:c.*19C>T | ENSP00000359662.2:n.*19C>T | |
ENST00000370629.6:c.*19C>T | ENSP00000359663.2:n.*19C>T | |
NM_000074.2:c.*19C>T , LRG_141t1:c.*19C>T | NP_000065.1:n.*19C>T | |
NM_000074.3:c.*19C>T MANE Select | NP_000065.1:n.*19C>T |