HGVS | Genome Assembly |
---|---|
NC_000006.12:g.167341218G>A , CM000668.2:g.167341218G>A | GRCh38 |
NC_000006.11:g.167754706G>A , CM000668.1:g.167754706G>A | GRCh37 |
NC_000006.10:g.167674696G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239587.10:c.1318G>A MANE Select | ENSP00000239587.5:p.Ala440Thr | |
ENST00000649884.1:c.1099G>A | ENSP00000497040.1:p.Ala367Thr | |
ENST00000239587.9:c.1318G>A | ENSP00000239587.5:p.Ala440Thr | |
ENST00000515138.1:c.1318G>A | ENSP00000424130.1:p.Ala440Thr | |
NM_031949.4:c.1318G>A | NP_114155.4:p.Ala440Thr | |
XM_006715572.2:c.1099G>A | XP_006715635.1:p.Ala367Thr | |
XM_006715572.4:c.1099G>A | XP_006715635.1:p.Ala367Thr | |
NM_031949.5:c.1318G>A MANE Select | NP_114155.4:p.Ala440Thr |