HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552270C>G , CM000681.2:g.43552270C>G | GRCh38 |
NC_000019.9:g.44056422C>G , CM000681.1:g.44056422C>G | GRCh37 |
NC_000019.8:g.48748262C>G | NCBI36 |
NG_033799.1:g.28309G>C , LRG_784:g.28309G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.829G>C MANE Select | ENSP00000262887.5:p.Ala277Pro | |
ENST00000262887.9:c.829G>C | ENSP00000262887.4:p.Ala277Pro | |
ENST00000543982.5:c.736G>C | ENSP00000443671.1:p.Ala246Pro | |
ENST00000595789.5:n.950G>C | ||
ENST00000597811.5:c.439G>C | ||
ENST00000598165.5:c.850G>C | ENSP00000470045.1:p.Ala284Pro | |
ENST00000598422.1:n.509G>C | ||
NM_006297.2:c.829G>C , LRG_784t1:c.829G>C | NP_006288.2:p.Ala277Pro | |
NM_006297.3:c.829G>C MANE Select | NP_006288.2:p.Ala277Pro |