HGVS | Genome Assembly |
---|---|
NC_000004.12:g.39446727C>T , CM000666.2:g.39446727C>T | GRCh38 |
NC_000004.11:g.39448347C>T , CM000666.1:g.39448347C>T | GRCh37 |
NC_000004.10:g.39124742C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257408.5:c.2001C>T MANE Select | ENSP00000257408.4:p.Ala667= | |
ENST00000257408.4:c.2001C>T | ENSP00000257408.4:p.Ala667= | |
NM_175737.3:c.2001C>T | NP_783864.1:p.Ala667= | |
XM_005262644.1:c.1974C>T | XP_005262701.1:p.Ala658= | |
NM_175737.4:c.2001C>T MANE Select | NP_783864.1:p.Ala667= |