HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443361C>G , CM000668.2:g.32443361C>G | GRCh38 |
NC_000006.11:g.32411138C>G , CM000668.1:g.32411138C>G | GRCh37 |
NC_000006.10:g.32519116C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.505C>G MANE Select | ENSP00000378786.2:p.Leu169Val | |
ENST00000374982.5:c.430C>G | ENSP00000364121.5:p.Leu144Val | |
ENST00000395388.6:c.505C>G | ENSP00000378786.2:p.Leu169Val | |
NM_019111.4:c.505C>G | NP_061984.2:p.Leu169Val | |
NM_019111.5:c.505C>G MANE Select | NP_061984.2:p.Leu169Val |