HGVS | Genome Assembly |
---|---|
NC_000002.12:g.241801850C>G , CM000664.2:g.241801850C>G | GRCh38 |
NC_000002.11:g.242741265C>G , CM000664.1:g.242741265C>G | GRCh37 |
NC_000002.10:g.242389938C>G | NCBI36 |
NG_046977.1:g.30026C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000192314.7:c.189C>G MANE Select | ENSP00000192314.6:p.Ala63= | |
ENST00000192314.6:c.189C>G | ENSP00000192314.6:p.Ala63= | |
NM_022134.2:c.189C>G | NP_071417.2:p.Ala63= | |
NM_022134.3:c.189C>G MANE Select | NP_071417.2:p.Ala63= |