HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110780978C>G , CM000672.2:g.110780978C>G | GRCh38 |
NC_000010.10:g.112540736C>G , CM000672.1:g.112540736C>G | GRCh37 |
NC_000010.9:g.112530726C>G | NCBI36 |
NG_021177.1:g.141582C>G , LRG_382:g.141582C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.369C>G MANE Select | ENSP00000358532.3:p.Val123= | |
ENST00000369519.3:c.369C>G | ENSP00000358532.3:p.Val123= | |
NM_001134363.2:c.369C>G | NP_001127835.2:p.Val123= | |
XM_011539697.1:c.-16C>G | XP_011537999.1:n.-16C>G | |
XM_017016103.2:c.204C>G | XP_016871592.1:p.Val68= | |
XM_017016104.2:c.-16C>G | XP_016871593.1:n.-16C>G | |
NM_001134363.3:c.369C>G MANE Select | NP_001127835.2:p.Val123= |