HGVS | Genome Assembly |
---|---|
NC_000009.12:g.92719408C>T , CM000671.2:g.92719408C>T | GRCh38 |
NC_000009.11:g.95481690C>T , CM000671.1:g.95481690C>T | GRCh37 |
NC_000009.10:g.94521511C>T | NCBI36 |
NG_033908.1:g.50394G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356884.11:c.1237G>A MANE Select | ENSP00000349351.6:p.Glu413Lys | |
ENST00000356884.10:c.1237G>A | ENSP00000349351.6:p.Glu413Lys | |
ENST00000375512.3:c.1237G>A | ENSP00000364662.3:p.Glu413Lys | |
NM_001003800.1:c.1237G>A | NP_001003800.1:p.Glu413Lys | |
NM_015250.3:c.1237G>A | NP_056065.1:p.Glu413Lys | |
XM_017014551.1:c.1318G>A | XP_016870040.1:p.Glu440Lys | |
NM_001003800.2:c.1237G>A MANE Select | NP_001003800.1:p.Glu413Lys | |
NM_015250.4:c.1237G>A | NP_056065.1:p.Glu413Lys |