HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31824288T>A , CM000682.2:g.31824288T>A | GRCh38 |
NC_000020.10:g.30412091T>A , CM000682.1:g.30412091T>A | GRCh37 |
NC_000020.9:g.29875752T>A | NCBI36 |
NG_012847.1:g.9914T>A , LRG_392:g.9914T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375985.5:c.908T>A MANE Select | ENSP00000365152.4:p.Met303Lys | |
ENST00000375985.4:c.908T>A | ENSP00000365152.4:p.Met303Lys | |
ENST00000375994.6:c.908T>A | ENSP00000365162.2:p.Met303Lys | |
NM_033118.3:c.908T>A , LRG_392t1:c.908T>A | NP_149109.1:p.Met303Lys | |
XR_244155.1:n.1274T>A | ||
NM_033118.4:c.908T>A MANE Select | NP_149109.1:p.Met303Lys |