HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29399277T>A , CM000685.2:g.29399277T>A | GRCh38 |
NC_000023.10:g.29417394T>A , CM000685.1:g.29417394T>A | GRCh37 |
NC_000023.9:g.29327315T>A | NCBI36 |
NG_008292.1:g.816714T>A | |
NG_008292.2:g.816714T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.672T>A MANE Select | ENSP00000368278.1:p.Val224= | |
ENST00000378993.5:c.672T>A | ENSP00000368278.1:p.Val224= | |
NM_014271.3:c.672T>A | NP_055086.1:p.Val224= | |
XM_005274441.1:c.672T>A | XP_005274498.1:p.Val224= | |
XM_011545445.1:c.672T>A | XP_011543747.1:p.Val224= | |
XM_017029240.1:c.672T>A | XP_016884729.1:p.Val224= | |
XM_017029241.1:c.294T>A | XP_016884730.1:p.Val98= | |
NM_014271.4:c.672T>A MANE Select | NP_055086.1:p.Val224= |