HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154201T>G , CM000681.2:g.55154201T>G | GRCh38 |
NC_000019.9:g.55665569T>G , CM000681.1:g.55665569T>G | GRCh37 |
NC_000019.8:g.60357381T>G | NCBI36 |
NG_007866.2:g.8532A>C , LRG_432:g.8532A>C | |
NG_011829.2:g.38A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.378A>C MANE Select | ENSP00000341838.5:p.Ala126= | |
ENST00000665070.1:c.411A>C | ENSP00000499482.1:p.Ala137= | |
ENST00000344887.9:c.378A>C | ENSP00000341838.5:p.Ala126= | |
ENST00000585806.5:n.377A>C | ||
ENST00000586669.5:n.386A>C | ||
ENST00000588882.1:c.303A>C | ENSP00000466729.1:p.Ala101= | |
ENST00000589864.1:n.206A>C | ||
NM_000363.4:c.378A>C , LRG_432t1:c.378A>C | NP_000354.4:p.Ala126= | |
NM_000363.5:c.378A>C MANE Select | NP_000354.4:p.Ala126= |