HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110781078G>A , CM000672.2:g.110781078G>A | GRCh38 |
NC_000010.10:g.112540836G>A , CM000672.1:g.112540836G>A | GRCh37 |
NC_000010.9:g.112530826G>A | NCBI36 |
NG_021177.1:g.141682G>A , LRG_382:g.141682G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369519.4:c.469G>A MANE Select | ENSP00000358532.3:p.Ala157Thr | |
ENST00000369519.3:c.469G>A | ENSP00000358532.3:p.Ala157Thr | |
NM_001134363.2:c.469G>A | NP_001127835.2:p.Ala157Thr | |
XM_011539697.1:c.85G>A | XP_011537999.1:p.Ala29Thr | |
XM_017016103.2:c.304G>A | XP_016871592.1:p.Ala102Thr | |
XM_017016104.2:c.85G>A | XP_016871593.1:p.Ala29Thr | |
NM_001134363.3:c.469G>A MANE Select | NP_001127835.2:p.Ala157Thr |