HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28768103G>C , CM000676.2:g.28768103G>C | GRCh38 |
NC_000014.8:g.29237309G>C , CM000676.1:g.29237309G>C | GRCh37 |
NC_000014.7:g.28307060G>C | NCBI36 |
NG_009367.1:g.6023G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706482.1:c.824G>C | ENSP00000516406.1:p.Arg275Pro | |
ENST00000313071.7:c.824G>C MANE Select | ENSP00000339004.3:p.Arg275Pro | |
ENST00000313071.6:c.824G>C | ENSP00000339004.3:p.Arg275Pro | |
NM_005249.4:c.824G>C | NP_005240.3:p.Arg275Pro | |
NM_005249.5:c.824G>C MANE Select | NP_005240.3:p.Arg275Pro |