HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905544A>T , CM000676.2:g.50905544A>T | GRCh38 |
NC_000014.8:g.51372262A>T , CM000676.1:g.51372262A>T | GRCh37 |
NC_000014.7:g.50442012A>T | NCBI36 |
NG_012796.1:g.43987T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.2392T>A MANE Select | ENSP00000216392.7:p.Trp798Arg | |
ENST00000216392.7:c.2392T>A | ENSP00000216392.7:p.Trp798Arg | |
ENST00000532462.5:c.2379+2727T>A | ENSP00000431657.1:n.2379+2727T>A | |
ENST00000544180.6:c.2290T>A | ENSP00000443787.1:p.Trp764Arg | |
NM_001163940.1:c.2290T>A | NP_001157412.1:p.Trp764Arg | |
NM_002863.4:c.2392T>A | NP_002854.3:p.Trp798Arg | |
NM_002863.5:c.2392T>A MANE Select | NP_002854.3:p.Trp798Arg | |
NM_001163940.2:c.2290T>A | NP_001157412.1:p.Trp764Arg |