HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443875A>C , CM000668.2:g.32443875A>C | GRCh38 |
NC_000006.11:g.32411652A>C , CM000668.1:g.32411652A>C | GRCh37 |
NC_000006.10:g.32519630A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000395388.7:c.730A>C MANE Select | ENSP00000378786.2:p.Lys244Gln | |
ENST00000374982.5:c.655A>C | ENSP00000364121.5:p.Lys219Gln | |
ENST00000395388.6:c.730A>C | ENSP00000378786.2:p.Lys244Gln | |
NM_019111.4:c.730A>C | NP_061984.2:p.Lys244Gln | |
NM_019111.5:c.730A>C MANE Select | NP_061984.2:p.Lys244Gln |