HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176855A>C , CM000674.2:g.21176855A>C | GRCh38 |
NC_000012.11:g.21329789A>C , CM000674.1:g.21329789A>C | GRCh37 |
NC_000012.10:g.21221056A>C | NCBI36 |
NG_011745.1:g.50662A>C , LRG_1022:g.50662A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.439A>C MANE Select | ENSP00000256958.2:p.Ile147Leu | |
ENST00000256958.2:c.439A>C | ENSP00000256958.2:p.Ile147Leu | |
ENST00000543498.5:c.505A>C | ||
NM_006446.4:c.439A>C , LRG_1022t1:c.439A>C | NP_006437.3:p.Ile147Leu | |
NM_006446.5:c.439A>C MANE Select | NP_006437.3:p.Ile147Leu |