HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23047822T>G , CM000682.2:g.23047822T>G | GRCh38 |
NC_000020.10:g.23028459T>G , CM000682.1:g.23028459T>G | GRCh37 |
NC_000020.9:g.22976459T>G | NCBI36 |
NG_012027.1:g.6843A>C , LRG_168:g.6843A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377103.3:c.1683A>C MANE Select | ENSP00000366307.2:p.Val561= | |
ENST00000377103.2:c.1683A>C | ENSP00000366307.2:p.Val561= | |
NM_000361.2:c.1683A>C , LRG_168t1:c.1683A>C | NP_000352.1:p.Val561= | |
NM_000361.3:c.1683A>C MANE Select | NP_000352.1:p.Val561= |