HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443296T>C , CM000668.2:g.32443296T>C | GRCh38 |
NC_000006.11:g.32411073T>C , CM000668.1:g.32411073T>C | GRCh37 |
NC_000006.10:g.32519051T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.440T>C MANE Select | ENSP00000378786.2:p.Leu147Pro | |
ENST00000374982.5:c.365T>C | ENSP00000364121.5:p.Leu122Pro | |
ENST00000395388.6:c.440T>C | ENSP00000378786.2:p.Leu147Pro | |
NM_019111.4:c.440T>C | NP_061984.2:p.Leu147Pro | |
NM_019111.5:c.440T>C MANE Select | NP_061984.2:p.Leu147Pro |