HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001327A>C , CM000683.2:g.46001327A>C | GRCh38 |
NC_000021.8:g.47421241A>C , CM000683.1:g.47421241A>C | GRCh37 |
NC_000021.7:g.46245669A>C | NCBI36 |
NG_008674.1:g.24579A>C , LRG_475:g.24579A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.296A>C | ||
ENST00000612273.2:c.23A>C | ||
ENST00000682634.1:c.23A>C | ||
ENST00000361866.8:c.1897A>C MANE Select | ENSP00000355180.3:p.Ile633Leu | |
ENST00000361866.7:c.1897A>C | ENSP00000355180.3:p.Ile633Leu | |
ENST00000463060.5:n.296A>C | ||
ENST00000498614.5:n.131A>C | ||
ENST00000612273.1:c.1891A>C | ENSP00000483630.1:p.Ile631Leu | |
NM_001848.2:c.1897A>C , LRG_475t1:c.1897A>C | NP_001839.2:p.Ile633Leu | |
NM_001848.3:c.1897A>C MANE Select | NP_001839.2:p.Ile633Leu |