HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20242456C>G , CM000684.2:g.20242456C>G | GRCh38 |
NC_000022.10:g.20229979C>G , CM000684.1:g.20229979C>G | GRCh37 |
NC_000022.9:g.18609979C>G | NCBI36 |
NG_012176.1:g.30838G>C | |
NG_012176.2:g.30838G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000043402.8:c.677G>C MANE Select | ENSP00000043402.7:p.Gly226Ala | |
ENST00000043402.7:c.677G>C | ENSP00000043402.7:p.Gly226Ala | |
ENST00000416372.5:c.736G>C | ||
ENST00000425986.1:c.934G>C | ||
NM_023004.5:c.677G>C | NP_075380.1:p.Gly226Ala | |
NM_023004.6:c.677G>C MANE Select | NP_075380.1:p.Gly226Ala |