HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74774636C>G , CM000678.2:g.74774636C>G | GRCh38 |
NC_000016.9:g.74808534C>G , CM000678.1:g.74808534C>G | GRCh37 |
NC_000016.8:g.73366035C>G | NCBI36 |
NG_017070.1:g.5196G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.120G>C MANE Select | ENSP00000219368.3:p.Val40= | |
ENST00000219368.7:c.120G>C | ENSP00000219368.3:p.Val40= | |
ENST00000567683.5:c.120G>C | ENSP00000455126.1:p.Val40= | |
NM_024306.4:c.120G>C | NP_077282.3:p.Val40= | |
XM_011523317.1:c.120G>C | XP_011521619.1:p.Val40= | |
XM_011523318.1:c.120G>C | XP_011521620.1:p.Val40= | |
XM_011523317.3:c.120G>C | XP_011521619.1:p.Val40= | |
NM_024306.5:c.120G>C MANE Select | NP_077282.3:p.Val40= |