HGVS | Genome Assembly |
---|---|
NC_000008.11:g.144097128G>A , CM000670.2:g.144097128G>A | GRCh38 |
NC_000008.10:g.145152031G>A , CM000670.1:g.145152031G>A | GRCh37 |
NC_000008.9:g.145224019G>A | NCBI36 |
NG_033872.1:g.7094G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318911.5:c.867G>A MANE Select | ENSP00000317159.4:p.Gly289= | |
ENST00000318911.4:c.867G>A | ENSP00000317159.4:p.Gly289= | |
ENST00000525122.1:n.495G>A | ||
ENST00000533444.1:n.1532G>A | ||
NM_001916.4:c.867G>A | NP_001907.2:p.Gly289= | |
XM_017013102.1:c.690G>A | XP_016868591.1:p.Gly230= | |
XM_024447072.1:c.690G>A | XP_024302840.1:p.Gly230= | |
NM_001916.5:c.867G>A MANE Select | NP_001907.3:p.Gly289= |