HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872899A>G , CM000671.2:g.130872899A>G | GRCh38 |
NC_000009.11:g.133748286A>G , CM000671.1:g.133748286A>G | GRCh37 |
NC_000009.10:g.132738107A>G | NCBI36 |
NG_012034.1:g.164019A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.1004A>G | ENSP00000361423.2:p.Glu335Gly | |
ENST00000318560.6:c.947A>G MANE Select | ENSP00000323315.5:p.Glu316Gly | |
ENST00000372348.7:c.1004A>G | ENSP00000361423.2:p.Glu335Gly | |
ENST00000318560.5:c.947A>G | ENSP00000323315.5:p.Glu316Gly | |
ENST00000372348.6:c.1004A>G | ENSP00000361423.2:p.Glu335Gly | |
NM_005157.5:c.947A>G | NP_005148.2:p.Glu316Gly | |
NM_007313.2:c.1004A>G | NP_009297.2:p.Glu335Gly | |
NM_005157.6:c.947A>G MANE Select | NP_005148.2:p.Glu316Gly | |
NM_007313.3:c.1004A>G | NP_009297.2:p.Glu335Gly |