HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010679A>T , CM000664.2:g.189010679A>T | GRCh38 |
NC_000002.11:g.189875405A>T , CM000664.1:g.189875405A>T | GRCh37 |
NC_000002.10:g.189583650A>T | NCBI36 |
NG_007404.1:g.41307A>T , LRG_3:g.41307A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.3944A>T | ENSP00000415346.2:p.Asp1315Val | |
ENST00000304636.9:c.4043A>T MANE Select | ENSP00000304408.4:p.Asp1348Val | |
ENST00000304636.7:c.4043A>T | ENSP00000304408.3:p.Asp1348Val | |
ENST00000317840.9:c.3134A>T | ENSP00000315243.6:p.Asp1045Val | |
ENST00000487010.1:n.1422A>T | ||
NM_000090.3:c.4043A>T , LRG_3t1:c.4043A>T | NP_000081.1:p.Asp1348Val | |
NM_000090.4:c.4043A>T MANE Select | NP_000081.2:p.Asp1348Val |