HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443882A>C , CM000668.2:g.32443882A>C | GRCh38 |
NC_000006.11:g.32411659A>C , CM000668.1:g.32411659A>C | GRCh37 |
NC_000006.10:g.32519637A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000395388.7:c.737A>C MANE Select | ENSP00000378786.2:p.Asn246Thr | |
ENST00000374982.5:c.662A>C | ENSP00000364121.5:p.Asn221Thr | |
ENST00000395388.6:c.737A>C | ENSP00000378786.2:p.Asn246Thr | |
NM_019111.4:c.737A>C | NP_061984.2:p.Asn246Thr | |
NM_019111.5:c.737A>C MANE Select | NP_061984.2:p.Asn246Thr |