HGVS | Genome Assembly |
---|---|
NC_000004.12:g.39446787C>A , CM000666.2:g.39446787C>A | GRCh38 |
NC_000004.11:g.39448407C>A , CM000666.1:g.39448407C>A | GRCh37 |
NC_000004.10:g.39124802C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257408.5:c.2061C>A MANE Select | ENSP00000257408.4:p.Leu687= | |
ENST00000257408.4:c.2061C>A | ENSP00000257408.4:p.Leu687= | |
NM_175737.3:c.2061C>A | NP_783864.1:p.Leu687= | |
XM_005262644.1:c.2034C>A | XP_005262701.1:p.Leu678= | |
NM_175737.4:c.2061C>A MANE Select | NP_783864.1:p.Leu687= |