HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172448042C>A , CM000665.2:g.172448042C>A | GRCh38 |
NC_000003.11:g.172165832C>A , CM000665.1:g.172165832C>A | GRCh37 |
NC_000003.10:g.173648526C>A | NCBI36 |
NG_021159.1:g.5415G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241256.3:c.372G>T MANE Select | ENSP00000241256.2:p.Glu124Asp | |
ENST00000241256.2:c.372G>T | ENSP00000241256.2:p.Glu124Asp | |
ENST00000427970.1:c.372G>T | ENSP00000395344.1:p.Glu124Asp | |
NM_004122.2:c.372G>T | NP_004113.1:p.Glu124Asp | |
NM_198407.2:c.372G>T MANE Select | NP_940799.1:p.Glu124Asp |