HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762619A>C , CM000668.2:g.34762619A>C | GRCh38 |
NC_000006.11:g.34730396A>C , CM000668.1:g.34730396A>C | GRCh37 |
NC_000006.10:g.34838374A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.76A>C MANE Select | ENSP00000244520.5:p.Ser26Arg | |
ENST00000244520.9:c.76A>C | ENSP00000244520.5:p.Ser26Arg | |
ENST00000374017.3:c.139A>C | ENSP00000363129.3:p.Ser47Arg | |
ENST00000374018.5:c.-48A>C | ENSP00000363130.1:n.-48A>C | |
ENST00000474635.1:n.68A>C | ||
NM_003093.2:c.76A>C | NP_003084.1:p.Ser26Arg | |
NR_029472.1:n.483A>C | ||
NM_003093.3:c.76A>C MANE Select | NP_003084.1:p.Ser26Arg | |
NR_029472.2:n.72A>C |