HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67585228T>C , CM000673.2:g.67585228T>C | GRCh38 |
NC_000011.9:g.67352699T>C , CM000673.1:g.67352699T>C | GRCh37 |
NC_000011.8:g.67109275T>C | NCBI36 |
NG_012075.1:g.6634T>C , LRG_723:g.6634T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000398603.6:c.323T>C | ENSP00000381604.1:p.Ile108Thr | |
ENST00000398606.10:c.323T>C MANE Select | ENSP00000381607.3:p.Ile108Thr | |
ENST00000646888.1:c.*39T>C | ENSP00000494477.1:n.*39T>C | |
ENST00000398603.5:c.323T>C | ENSP00000381604.1:p.Ile108Thr | |
ENST00000398606.7:c.323T>C | ENSP00000381607.3:p.Ile108Thr | |
ENST00000467591.1:n.434T>C | ||
ENST00000494593.1:n.1118T>C | ||
ENST00000498765.5:c.386T>C | ||
NM_000852.3:c.323T>C , LRG_723t1:c.323T>C | NP_000843.1:p.Ile108Thr | |
NM_000852.4:c.323T>C MANE Select | NP_000843.1:p.Ile108Thr |