HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659118T>C , CM000685.2:g.136659118T>C | GRCh38 |
NC_000023.10:g.135741277T>C , CM000685.1:g.135741277T>C | GRCh37 |
NC_000023.9:g.135568943T>C | NCBI36 |
NG_007280.1:g.15942T>C , LRG_141:g.15942T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*107T>C | ENSP00000512122.1:n.*107T>C | |
ENST00000695725.1:c.*44T>C | ENSP00000512123.1:n.*44T>C | |
ENST00000695726.1:n.2457T>C | ||
ENST00000695729.1:n.3292T>C | ||
ENST00000370629.7:c.489T>C MANE Select | ENSP00000359663.2:p.Val163= | |
ENST00000370628.2:c.426T>C | ENSP00000359662.2:p.Val142= | |
ENST00000370629.6:c.489T>C | ENSP00000359663.2:p.Val163= | |
NM_000074.2:c.489T>C , LRG_141t1:c.489T>C | NP_000065.1:p.Val163= | |
NM_000074.3:c.489T>C MANE Select | NP_000065.1:p.Val163= |