HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145573T>C , CM000668.2:g.24145573T>C | GRCh38 |
NC_000006.11:g.24145801T>C , CM000668.1:g.24145801T>C | GRCh37 |
NC_000006.10:g.24253780T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378491.9:c.215T>C MANE Select | ENSP00000367752.4:p.Phe72Ser | |
ENST00000378477.2:c.215T>C | ENSP00000367738.2:p.Phe72Ser | |
ENST00000378478.5:c.215T>C | ENSP00000367739.2:p.Phe72Ser | |
ENST00000378491.8:c.215T>C | ENSP00000367752.4:p.Phe72Ser | |
ENST00000468195.2:n.257-9198T>C | ||
NM_080723.4:c.215T>C | NP_542454.3:p.Phe72Ser | |
NM_080723.5:c.215T>C MANE Select | NP_542454.3:p.Phe72Ser |