HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337504C>A , CM000673.2:g.47337504C>A | GRCh38 |
NC_000011.9:g.47359055C>A , CM000673.1:g.47359055C>A | GRCh37 |
NC_000011.8:g.47315631C>A | NCBI36 |
NG_007667.1:g.20199G>T , LRG_386:g.20199G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2489G>T MANE Select | ENSP00000442795.1:p.Ser830Ile | |
ENST00000256993.8:c.2489G>T | ENSP00000256993.5:p.Ser830Ile | |
ENST00000399249.6:c.2489G>T | ENSP00000382193.2:p.Ser830Ile | |
ENST00000544791.1:c.2421G>T | ENSP00000444259.1:p.Glu807Asp | |
ENST00000545968.5:c.2489G>T | ENSP00000442795.1:p.Ser830Ile | |
NM_000256.3:c.2489G>T , LRG_386t1:c.2489G>T MANE Select | NP_000247.2:p.Ser830Ile | |
XM_011520117.1:c.2471G>T | XP_011518419.1:p.Ser824Ile | |
XM_011520118.1:c.2408G>T | XP_011518420.1:p.Ser803Ile |