HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37728068G>A , CM000685.2:g.37728068G>A | GRCh38 |
NC_000023.10:g.37587321G>A , CM000685.1:g.37587321G>A | GRCh37 |
NC_000023.9:g.37472260G>A | NCBI36 |
NG_007473.1:g.47209G>A | |
NG_007473.3:g.47189G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378616.5:c.941G>A MANE Select | ENSP00000367879.3:p.Trp314Ter | |
ENST00000378616.3:c.941G>A | ENSP00000367879.3:p.Trp314Ter | |
ENST00000465127.1:c.171+302068G>A | ENSP00000417050.1:n.171+302068G>A | |
NM_021083.2:c.941G>A | NP_066569.1:p.Trp314Ter | |
NM_021083.4:c.941G>A MANE Select | NP_066569.1:p.Trp314Ter |