HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659377G>T , CM000685.2:g.136659377G>T | GRCh38 |
NC_000023.10:g.135741536G>T , CM000685.1:g.135741536G>T | GRCh37 |
NC_000023.9:g.135569202G>T | NCBI36 |
NG_007280.1:g.16201G>T , LRG_141:g.16201G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*366G>T | ENSP00000512122.1:n.*366G>T | |
ENST00000695725.1:c.*303G>T | ENSP00000512123.1:n.*303G>T | |
ENST00000695726.1:n.2716G>T | ||
ENST00000695729.1:n.3551G>T | ||
ENST00000370629.7:c.748G>T MANE Select | ENSP00000359663.2:p.Gly250Cys | |
ENST00000370628.2:c.685G>T | ENSP00000359662.2:p.Gly229Cys | |
ENST00000370629.6:c.748G>T | ENSP00000359663.2:p.Gly250Cys | |
NM_000074.2:c.748G>T , LRG_141t1:c.748G>T | NP_000065.1:p.Gly250Cys | |
NM_000074.3:c.748G>T MANE Select | NP_000065.1:p.Gly250Cys |