HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86579211A>C , CM000670.2:g.86579211A>C | GRCh38 |
NC_000008.10:g.87591439A>C , CM000670.1:g.87591439A>C | GRCh37 |
NC_000008.9:g.87660555A>C | NCBI36 |
NG_016980.1:g.169465T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.1823T>G MANE Select | ENSP00000316605.5:p.Val608Gly | |
ENST00000681546.1:n.1643T>G | ||
ENST00000681746.1:c.*234T>G | ENSP00000505959.1:n.*234T>G | |
ENST00000320005.5:c.1823T>G | ENSP00000316605.5:p.Val608Gly | |
NM_019098.4:c.1823T>G | NP_061971.3:p.Val608Gly | |
XM_011517138.1:c.1409T>G | XP_011515440.1:p.Val470Gly | |
XM_011517138.2:c.1409T>G | XP_011515440.1:p.Val470Gly | |
NM_019098.5:c.1823T>G MANE Select | NP_061971.3:p.Val608Gly |