HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862974G>A , CM000671.2:g.130862974G>A | GRCh38 |
NC_000009.11:g.133738361G>A , CM000671.1:g.133738361G>A | GRCh37 |
NC_000009.10:g.132728182G>A | NCBI36 |
NG_012034.1:g.154094G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.818G>A | ENSP00000361423.2:p.Gly273Glu | |
ENST00000318560.6:c.761G>A MANE Select | ENSP00000323315.5:p.Gly254Glu | |
ENST00000372348.7:c.818G>A | ENSP00000361423.2:p.Gly273Glu | |
ENST00000318560.5:c.761G>A | ENSP00000323315.5:p.Gly254Glu | |
ENST00000372348.6:c.818G>A | ENSP00000361423.2:p.Gly273Glu | |
NM_005157.5:c.761G>A | NP_005148.2:p.Gly254Glu | |
NM_007313.2:c.818G>A | NP_009297.2:p.Gly273Glu | |
NM_005157.6:c.761G>A MANE Select | NP_005148.2:p.Gly254Glu | |
NM_007313.3:c.818G>A | NP_009297.2:p.Gly273Glu |