HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352168G>T , CM000679.2:g.44352168G>T | GRCh38 |
NC_000017.10:g.42429536G>T , CM000679.1:g.42429536G>T | GRCh37 |
NC_000017.9:g.39785062G>T | NCBI36 |
NG_007886.1:g.12046G>T , LRG_661:g.12046G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1333G>T MANE Select | ENSP00000053867.2:p.Asp445Tyr | |
ENST00000639447.1:c.1137-361G>T | ENSP00000492014.1:n.1137-361G>T | |
ENST00000053867.7:c.1333G>T | ENSP00000053867.2:p.Asp445Tyr | |
ENST00000586443.1:c.774G>T | ||
ENST00000589265.5:c.862G>T | ENSP00000467616.1:p.Asp288Tyr | |
NM_002087.3:c.1333G>T | NP_002078.1:p.Asp445Tyr | |
XM_005257253.1:c.1333G>T | XP_005257310.1:p.Asp445Tyr | |
XM_024450730.1:c.1333G>T | XP_024306498.1:p.Asp445Tyr | |
NM_002087.4:c.1333G>T MANE Select | NP_002078.1:p.Asp445Tyr |