HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47342864A>T , CM000673.2:g.47342864A>T | GRCh38 |
NC_000011.9:g.47364415A>T , CM000673.1:g.47364415A>T | GRCh37 |
NC_000011.8:g.47320991A>T | NCBI36 |
NG_007667.1:g.14839T>A , LRG_386:g.14839T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1423T>A MANE Select | ENSP00000442795.1:p.Cys475Ser | |
ENST00000256993.8:c.1423T>A | ENSP00000256993.5:p.Cys475Ser | |
ENST00000399249.6:c.1423T>A | ENSP00000382193.2:p.Cys475Ser | |
ENST00000544791.1:c.1423T>A | ENSP00000444259.1:p.Cys475Ser | |
ENST00000545968.5:c.1423T>A | ENSP00000442795.1:p.Cys475Ser | |
NM_000256.3:c.1423T>A , LRG_386t1:c.1423T>A MANE Select | NP_000247.2:p.Cys475Ser | |
XM_011520117.1:c.1405T>A | XP_011518419.1:p.Cys469Ser | |
XM_011520118.1:c.1423T>A | XP_011518420.1:p.Cys475Ser |