HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878073T>A , CM000664.2:g.240878073T>A | GRCh38 |
NC_000002.11:g.241817490T>A , CM000664.1:g.241817490T>A | GRCh37 |
NC_000002.10:g.241466163T>A | NCBI36 |
NG_008005.1:g.14329T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.994T>A MANE Select | ENSP00000302620.3:p.Trp332Arg | |
ENST00000307503.3:c.994T>A | ENSP00000302620.3:p.Trp332Arg | |
ENST00000470255.1:n.772T>A | ||
NM_000030.2:c.994T>A | NP_000021.1:p.Trp332Arg | |
NM_000030.3:c.994T>A MANE Select | NP_000021.1:p.Trp332Arg |