HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659378G>C , CM000685.2:g.136659378G>C | GRCh38 |
NC_000023.10:g.135741537G>C , CM000685.1:g.135741537G>C | GRCh37 |
NC_000023.9:g.135569203G>C | NCBI36 |
NG_007280.1:g.16202G>C , LRG_141:g.16202G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*367G>C | ENSP00000512122.1:n.*367G>C | |
ENST00000695725.1:c.*304G>C | ENSP00000512123.1:n.*304G>C | |
ENST00000695726.1:n.2717G>C | ||
ENST00000695729.1:n.3552G>C | ||
ENST00000370629.7:c.749G>C MANE Select | ENSP00000359663.2:p.Gly250Ala | |
ENST00000370628.2:c.686G>C | ENSP00000359662.2:p.Gly229Ala | |
ENST00000370629.6:c.749G>C | ENSP00000359663.2:p.Gly250Ala | |
NM_000074.2:c.749G>C , LRG_141t1:c.749G>C | NP_000065.1:p.Gly250Ala | |
NM_000074.3:c.749G>C MANE Select | NP_000065.1:p.Gly250Ala |