HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19956006G>C , CM000670.2:g.19956006G>C | GRCh38 |
NC_000008.10:g.19813517G>C , CM000670.1:g.19813517G>C | GRCh37 |
NC_000008.9:g.19857797G>C | NCBI36 |
NG_008855.1:g.21936G>C | |
NG_008855.2:g.59290G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.941G>C MANE Select | ENSP00000497642.1:p.Gly314Ala | |
ENST00000650478.1:c.2G>C | ENSP00000497560.1:p.Gly1Ala | |
ENST00000311322.8:c.941G>C | ENSP00000309757.6:p.Gly314Ala | |
NM_000237.2:c.941G>C | NP_000228.1:p.Gly314Ala | |
NM_000237.3:c.941G>C MANE Select | NP_000228.1:p.Gly314Ala |