HGVS | Genome Assembly |
---|---|
NC_000001.11:g.2406526G>T , CM000663.2:g.2406526G>T | GRCh38 |
NC_000001.10:g.2337965G>T , CM000663.1:g.2337965G>T | GRCh37 |
NC_000001.9:g.2327825G>T | NCBI36 |
NG_008342.1:g.11046C>A | |
NG_016128.1:g.19752G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288774.8:c.930C>A | ENSP00000288774.3:p.His310Gln | |
ENST00000447513.7:c.870C>A MANE Select | ENSP00000407922.2:p.His290Gln | |
ENST00000650293.1:c.824C>A | ||
ENST00000288774.7:c.930C>A | ENSP00000288774.3:p.His310Gln | |
ENST00000447513.6:c.870C>A | ENSP00000407922.2:p.His290Gln | |
ENST00000507596.5:c.870C>A | ENSP00000424291.1:p.His290Gln | |
ENST00000510434.1:c.*236C>A | ENSP00000423051.1:n.*236C>A | |
NM_002617.3:c.870C>A | NP_002608.1:p.His290Gln | |
NM_153818.1:c.930C>A | NP_722540.1:p.His310Gln | |
XM_011541573.1:c.927C>A | XP_011539875.1:p.His309Gln | |
XM_011541574.1:c.495C>A | XP_011539876.1:p.His165Gln | |
XM_011541575.1:c.495C>A | XP_011539877.1:p.His165Gln | |
XR_946666.1:n.986C>A | ||
XR_946666.2:n.935C>A | ||
NM_001374425.1:c.927C>A | NP_001361354.1:p.His309Gln | |
NM_001374426.1:c.495C>A | NP_001361355.1:p.His165Gln | |
NM_001374427.1:c.438C>A | NP_001361356.1:p.His146Gln | |
NM_002617.4:c.870C>A MANE Select | NP_002608.1:p.His290Gln | |
NM_153818.2:c.930C>A | NP_722540.1:p.His310Gln | |
NR_164636.1:n.985C>A |