HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47338523T>C , CM000673.2:g.47338523T>C | GRCh38 |
NC_000011.9:g.47360074T>C , CM000673.1:g.47360074T>C | GRCh37 |
NC_000011.8:g.47316650T>C | NCBI36 |
NG_007667.1:g.19180A>G , LRG_386:g.19180A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2305A>G MANE Select | ENSP00000442795.1:p.Ile769Val | |
ENST00000256993.8:c.2305A>G | ENSP00000256993.5:p.Ile769Val | |
ENST00000399249.6:c.2305A>G | ENSP00000382193.2:p.Ile769Val | |
ENST00000544791.1:c.2305A>G | ENSP00000444259.1:p.Ile769Val | |
ENST00000545968.5:c.2305A>G | ENSP00000442795.1:p.Ile769Val | |
NM_000256.3:c.2305A>G , LRG_386t1:c.2305A>G MANE Select | NP_000247.2:p.Ile769Val | |
XM_011520117.1:c.2287A>G | XP_011518419.1:p.Ile763Val | |
XM_011520118.1:c.2224A>G | XP_011518420.1:p.Ile742Val |