HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48348995T>A , CM000675.2:g.48348995T>A | GRCh38 |
NC_000013.10:g.48923131T>A , CM000675.1:g.48923131T>A | GRCh37 |
NC_000013.9:g.47821132T>A | NCBI36 |
NG_009009.1:g.50249T>A , LRG_517:g.50249T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.579T>A MANE Select | ENSP00000267163.4:p.Val193= | |
ENST00000650461.1:c.579T>A | ENSP00000497193.1:p.Val193= | |
ENST00000267163.4:c.579T>A | ENSP00000267163.4:p.Val193= | |
ENST00000467505.5:c.138-11022T>A | ENSP00000434702.1:n.138-11022T>A | |
ENST00000525036.1:n.741T>A | ||
NM_000321.2:c.579T>A , LRG_517t1:c.579T>A | NP_000312.2:p.Val193= | |
XM_011535171.1:c.318T>A | XP_011533473.1:p.Val106= | |
XM_011535171.2:c.318T>A | XP_011533473.1:p.Val106= | |
NM_000321.3:c.579T>A MANE Select | NP_000312.2:p.Val193= |