HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74752125C>T , CM000677.2:g.74752125C>T | GRCh38 |
NC_000015.9:g.75044466C>T , CM000677.1:g.75044466C>T | GRCh37 |
NC_000015.8:g.72831519C>T | NCBI36 |
NG_008431.1:g.34584C>T | |
NG_008431.2:g.34584C>T | |
NG_061543.1:g.8281C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1044C>T MANE Select | ENSP00000342007.4:p.Asp348= | |
ENST00000343932.4:c.1044C>T | ENSP00000342007.4:p.Asp348= | |
NM_000761.4:c.1044C>T | NP_000752.2:p.Asp348= | |
NM_000761.5:c.1044C>T MANE Select | NP_000752.2:p.Asp348= |