HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38411905T>G , CM000685.2:g.38411905T>G | GRCh38 |
NC_000023.10:g.38271158T>G , CM000685.1:g.38271158T>G | GRCh37 |
NC_000023.9:g.38156102T>G | NCBI36 |
NG_008471.1:g.64423T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.911T>G MANE Select | ENSP00000039007.4:p.Leu304Trp | |
ENST00000643344.1:c.*661T>G | ENSP00000496606.1:n.*661T>G | |
ENST00000039007.4:c.911T>G | ENSP00000039007.4:p.Leu304Trp | |
ENST00000465127.1:c.172-254216T>G | ENSP00000417050.1:n.172-254216T>G | |
NM_000531.5:c.911T>G | NP_000522.3:p.Leu304Trp | |
NM_000531.6:c.911T>G MANE Select | NP_000522.3:p.Leu304Trp |