HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584719A>T , CM000673.2:g.67584719A>T | GRCh38 |
NC_000011.9:g.67352190A>T , CM000673.1:g.67352190A>T | GRCh37 |
NC_000011.8:g.67108766A>T | NCBI36 |
NG_012075.1:g.6125A>T , LRG_723:g.6125A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.179A>T | ENSP00000381604.1:p.Asp60Val | |
ENST00000398606.10:c.179A>T MANE Select | ENSP00000381607.3:p.Asp60Val | |
ENST00000646888.1:c.72A>T | ENSP00000494477.1:p.Arg24Ser | |
ENST00000398603.5:c.179A>T | ENSP00000381604.1:p.Asp60Val | |
ENST00000398606.7:c.179A>T | ENSP00000381607.3:p.Asp60Val | |
ENST00000489040.1:n.178A>T | ||
ENST00000494593.1:n.609A>T | ||
ENST00000498765.5:c.142A>T | ||
NM_000852.3:c.179A>T , LRG_723t1:c.179A>T | NP_000843.1:p.Asp60Val | |
NM_000852.4:c.179A>T MANE Select | NP_000843.1:p.Asp60Val |