HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119669964G>C , CM000672.2:g.119669964G>C | GRCh38 |
NC_000010.10:g.121429476G>C , CM000672.1:g.121429476G>C | GRCh37 |
NC_000010.9:g.121419466G>C | NCBI36 |
NG_016125.1:g.23595G>C , LRG_742:g.23595G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.294G>C MANE Select | ENSP00000358081.4:p.Val98= | |
ENST00000369085.7:c.294G>C | ENSP00000358081.3:p.Val98= | |
ENST00000450186.1:c.120G>C | ENSP00000410036.1:p.Val40= | |
NM_004281.3:c.294G>C , LRG_742t1:c.294G>C | NP_004272.2:p.Val98= | |
XM_005270287.1:c.294G>C | XP_005270344.1:p.Val98= | |
XM_005270287.2:c.294G>C | XP_005270344.1:p.Val98= | |
NM_004281.4:c.294G>C MANE Select | NP_004272.2:p.Val98= |