HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188991720G>T , CM000664.2:g.188991720G>T | GRCh38 |
NC_000002.11:g.189856446G>T , CM000664.1:g.189856446G>T | GRCh37 |
NC_000002.10:g.189564691G>T | NCBI36 |
NG_007404.1:g.22348G>T , LRG_3:g.22348G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.949G>T | ENSP00000415346.2:p.Ala317Ser | |
ENST00000304636.9:c.949G>T MANE Select | ENSP00000304408.4:p.Ala317Ser | |
ENST00000304636.7:c.949G>T | ENSP00000304408.3:p.Ala317Ser | |
ENST00000317840.9:c.949G>T | ENSP00000315243.6:p.Ala317Ser | |
ENST00000450867.1:c.47G>T | ||
NM_000090.3:c.949G>T , LRG_3t1:c.949G>T | NP_000081.1:p.Ala317Ser | |
NM_000090.4:c.949G>T MANE Select | NP_000081.2:p.Ala317Ser |