HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794545T>A , CM000671.2:g.77794545T>A | GRCh38 |
NC_000009.11:g.80409461T>A , CM000671.1:g.80409461T>A | GRCh37 |
NC_000009.10:g.79599281T>A | NCBI36 |
NG_027904.2:g.241759A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.653A>T MANE Select | ENSP00000286548.4:p.His218Leu | |
ENST00000286548.8:c.653A>T | ENSP00000286548.4:p.His218Leu | |
NM_002072.4:c.653A>T | NP_002063.2:p.His218Leu | |
XM_017014628.2:c.479A>T | XP_016870117.1:p.His160Leu | |
NM_002072.5:c.653A>T MANE Select | NP_002063.2:p.His218Leu |