HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24956463T>C , CM000670.2:g.24956463T>C | GRCh38 |
NC_000008.10:g.24813977T>C , CM000670.1:g.24813977T>C | GRCh37 |
NC_000008.9:g.24869894T>C | NCBI36 |
NG_008492.1:g.5155A>G , LRG_259:g.5155A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610854.2:c.53A>G MANE Select | ENSP00000482169.2:p.Tyr18Cys | |
ENST00000610854.1:c.53A>G | ENSP00000482169.1:p.Tyr18Cys | |
ENST00000615973.1:n.259A>G | ||
ENST00000619417.1:c.53A>G | ENSP00000483690.1:p.Tyr18Cys | |
NM_006158.4:c.53A>G , LRG_259t1:c.53A>G | NP_006149.2:p.Tyr18Cys | |
NM_006158.5:c.53A>G MANE Select | NP_006149.2:p.Tyr18Cys |