HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443870T>G , CM000668.2:g.32443870T>G | GRCh38 |
NC_000006.11:g.32411647T>G , CM000668.1:g.32411647T>G | GRCh37 |
NC_000006.10:g.32519625T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.725T>G MANE Select | ENSP00000378786.2:p.Leu242Trp | |
ENST00000374982.5:c.650T>G | ENSP00000364121.5:p.Leu217Trp | |
ENST00000395388.6:c.725T>G | ENSP00000378786.2:p.Leu242Trp | |
NM_019111.4:c.725T>G | NP_061984.2:p.Leu242Trp | |
NM_019111.5:c.725T>G MANE Select | NP_061984.2:p.Leu242Trp |