HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48342656G>A , CM000675.2:g.48342656G>A | GRCh38 |
NC_000013.10:g.48916792G>A , CM000675.1:g.48916792G>A | GRCh37 |
NC_000013.9:g.47814793G>A | NCBI36 |
NG_009009.1:g.43910G>A , LRG_517:g.43910G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.322G>A MANE Select | ENSP00000267163.4:p.Val108Ile | |
ENST00000650461.1:c.322G>A | ENSP00000497193.1:p.Val108Ile | |
ENST00000267163.4:c.322G>A | ENSP00000267163.4:p.Val108Ile | |
ENST00000467505.5:c.138-17361G>A | ENSP00000434702.1:n.138-17361G>A | |
ENST00000525036.1:n.484G>A | ||
NM_000321.2:c.322G>A , LRG_517t1:c.322G>A | NP_000312.2:p.Val108Ile | |
XM_011535171.1:c.61G>A | XP_011533473.1:p.Val21Ile | |
XM_011535171.2:c.61G>A | XP_011533473.1:p.Val21Ile | |
NM_000321.3:c.322G>A MANE Select | NP_000312.2:p.Val108Ile |