HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794487T>C , CM000671.2:g.77794487T>C | GRCh38 |
NC_000009.11:g.80409403T>C , CM000671.1:g.80409403T>C | GRCh37 |
NC_000009.10:g.79599223T>C | NCBI36 |
NG_027904.2:g.241817A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.711A>G MANE Select | ENSP00000286548.4:p.Gln237= | |
ENST00000286548.8:c.711A>G | ENSP00000286548.4:p.Gln237= | |
NM_002072.4:c.711A>G | NP_002063.2:p.Gln237= | |
XM_017014628.2:c.537A>G | XP_016870117.1:p.Gln179= | |
NM_002072.5:c.711A>G MANE Select | NP_002063.2:p.Gln237= |