HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010780G>A , CM000664.2:g.189010780G>A | GRCh38 |
NC_000002.11:g.189875506G>A , CM000664.1:g.189875506G>A | GRCh37 |
NC_000002.10:g.189583751G>A | NCBI36 |
NG_007404.1:g.41408G>A , LRG_3:g.41408G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.4045G>A | ENSP00000415346.2:p.Ala1349Thr | |
ENST00000304636.9:c.4144G>A MANE Select | ENSP00000304408.4:p.Ala1382Thr | |
ENST00000304636.7:c.4144G>A | ENSP00000304408.3:p.Ala1382Thr | |
ENST00000317840.9:c.3235G>A | ENSP00000315243.6:p.Ala1079Thr | |
ENST00000487010.1:n.1523G>A | ||
NM_000090.3:c.4144G>A , LRG_3t1:c.4144G>A | NP_000081.1:p.Ala1382Thr | |
NM_000090.4:c.4144G>A MANE Select | NP_000081.2:p.Ala1382Thr |