HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86579211A>T , CM000670.2:g.86579211A>T | GRCh38 |
NC_000008.10:g.87591439A>T , CM000670.1:g.87591439A>T | GRCh37 |
NC_000008.9:g.87660555A>T | NCBI36 |
NG_016980.1:g.169465T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.1823T>A MANE Select | ENSP00000316605.5:p.Val608Glu | |
ENST00000681546.1:n.1643T>A | ||
ENST00000681746.1:c.*234T>A | ENSP00000505959.1:n.*234T>A | |
ENST00000320005.5:c.1823T>A | ENSP00000316605.5:p.Val608Glu | |
NM_019098.4:c.1823T>A | NP_061971.3:p.Val608Glu | |
XM_011517138.1:c.1409T>A | XP_011515440.1:p.Val470Glu | |
XM_011517138.2:c.1409T>A | XP_011515440.1:p.Val470Glu | |
NM_019098.5:c.1823T>A MANE Select | NP_061971.3:p.Val608Glu |