HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119185969T>C , CM000666.2:g.119185969T>C | GRCh38 |
NC_000004.11:g.120107124T>C , CM000666.1:g.120107124T>C | GRCh37 |
NC_000004.10:g.120326572T>C | NCBI36 |
NG_029747.1:g.55186T>C , LRG_396:g.55186T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307128.6:c.564T>C MANE Select | ENSP00000306997.6:p.Val188= | |
ENST00000307128.5:c.564T>C | ENSP00000306997.5:p.Val188= | |
NM_016599.4:c.564T>C , LRG_396t1:c.564T>C | NP_057683.1:p.Val188= | |
NM_016599.5:c.564T>C MANE Select | NP_057683.1:p.Val188= |