HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794579C>G , CM000671.2:g.77794579C>G | GRCh38 |
NC_000009.11:g.80409495C>G , CM000671.1:g.80409495C>G | GRCh37 |
NC_000009.10:g.79599315C>G | NCBI36 |
NG_027904.2:g.241725G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.619G>C MANE Select | ENSP00000286548.4:p.Gly207Arg | |
ENST00000286548.8:c.619G>C | ENSP00000286548.4:p.Gly207Arg | |
NM_002072.4:c.619G>C | NP_002063.2:p.Gly207Arg | |
XM_017014628.2:c.445G>C | XP_016870117.1:p.Gly149Arg | |
NM_002072.5:c.619G>C MANE Select | NP_002063.2:p.Gly207Arg |