HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862855T>G , CM000671.2:g.130862855T>G | GRCh38 |
NC_000009.11:g.133738242T>G , CM000671.1:g.133738242T>G | GRCh37 |
NC_000009.10:g.132728063T>G | NCBI36 |
NG_012034.1:g.153975T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.699T>G | ENSP00000361423.2:p.His233Gln | |
ENST00000318560.6:c.642T>G MANE Select | ENSP00000323315.5:p.His214Gln | |
ENST00000372348.7:c.699T>G | ENSP00000361423.2:p.His233Gln | |
ENST00000318560.5:c.642T>G | ENSP00000323315.5:p.His214Gln | |
ENST00000372348.6:c.699T>G | ENSP00000361423.2:p.His233Gln | |
NM_005157.5:c.642T>G | NP_005148.2:p.His214Gln | |
NM_007313.2:c.699T>G | NP_009297.2:p.His233Gln | |
NM_005157.6:c.642T>G MANE Select | NP_005148.2:p.His214Gln | |
NM_007313.3:c.699T>G | NP_009297.2:p.His233Gln |