HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954128C>G , CM000670.2:g.19954128C>G | GRCh38 |
NC_000008.10:g.19811639C>G , CM000670.1:g.19811639C>G | GRCh37 |
NC_000008.9:g.19855919C>G | NCBI36 |
NG_008855.1:g.20058C>G | |
NG_008855.2:g.57412C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.550C>G MANE Select | ENSP00000497642.1:p.Pro184Ala | |
ENST00000311322.8:c.550C>G | ENSP00000309757.6:p.Pro184Ala | |
ENST00000520959.5:c.322C>G | ENSP00000428496.1:p.Pro108Ala | |
NM_000237.2:c.550C>G | NP_000228.1:p.Pro184Ala | |
NM_000237.3:c.550C>G MANE Select | NP_000228.1:p.Pro184Ala |