HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044395G>C , CM000672.2:g.114044395G>C | GRCh38 |
NC_000010.10:g.115804154G>C , CM000672.1:g.115804154G>C | GRCh37 |
NC_000010.9:g.115794144G>C | NCBI36 |
NG_012187.1:g.5349G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.263G>C MANE Select | ENSP00000358301.2:p.Arg88Pro | |
ENST00000369295.3:c.263G>C | ENSP00000358301.2:p.Arg88Pro | |
NM_000684.2:c.263G>C | NP_000675.1:p.Arg88Pro | |
NM_000684.3:c.263G>C MANE Select | NP_000675.1:p.Arg88Pro |