HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659296A>C , CM000685.2:g.136659296A>C | GRCh38 |
NC_000023.10:g.135741455A>C , CM000685.1:g.135741455A>C | GRCh37 |
NC_000023.9:g.135569121A>C | NCBI36 |
NG_007280.1:g.16120A>C , LRG_141:g.16120A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*285A>C | ENSP00000512122.1:n.*285A>C | |
ENST00000695725.1:c.*222A>C | ENSP00000512123.1:n.*222A>C | |
ENST00000695726.1:n.2635A>C | ||
ENST00000695729.1:n.3470A>C | ||
ENST00000370629.7:c.667A>C MANE Select | ENSP00000359663.2:p.Ile223Leu | |
ENST00000370628.2:c.604A>C | ENSP00000359662.2:p.Ile202Leu | |
ENST00000370629.6:c.667A>C | ENSP00000359663.2:p.Ile223Leu | |
NM_000074.2:c.667A>C , LRG_141t1:c.667A>C | NP_000065.1:p.Ile223Leu | |
NM_000074.3:c.667A>C MANE Select | NP_000065.1:p.Ile223Leu |