Revel Score:
ENST00000288774
0.988
ENST00000447513 (MANE Select)
0.988
ENST00000507596
0.988
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406528G>C , CM000663.2:g.2406528G>C | GRCh38 |
| NC_000001.10:g.2337967G>C , CM000663.1:g.2337967G>C | GRCh37 |
| NC_000001.9:g.2327827G>C | NCBI36 |
| NG_008342.1:g.11044C>G | |
| NG_016128.1:g.19754G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.928C>G | ENSP00000288774.3:p.His310Asp | |
| ENST00000447513.7:c.868C>G MANE Select | ENSP00000407922.2:p.His290Asp | |
| ENST00000650293.1:c.822C>G | ||
| ENST00000288774.7:c.928C>G | ENSP00000288774.3:p.His310Asp | |
| ENST00000447513.6:c.868C>G | ENSP00000407922.2:p.His290Asp | |
| ENST00000507596.5:c.868C>G | ENSP00000424291.1:p.His290Asp | |
| ENST00000510434.1:c.*234C>G | ENSP00000423051.1:n.*234C>G | |
| NM_002617.3:c.868C>G | NP_002608.1:p.His290Asp | |
| NM_153818.1:c.928C>G | NP_722540.1:p.His310Asp | |
| XM_011541573.1:c.925C>G | XP_011539875.1:p.His309Asp | |
| XM_011541574.1:c.493C>G | XP_011539876.1:p.His165Asp | |
| XM_011541575.1:c.493C>G | XP_011539877.1:p.His165Asp | |
| XR_946666.1:n.984C>G | ||
| XR_946666.2:n.933C>G | ||
| NM_001374425.1:c.925C>G | NP_001361354.1:p.His309Asp | |
| NM_001374426.1:c.493C>G | NP_001361355.1:p.His165Asp | |
| NM_001374427.1:c.436C>G | NP_001361356.1:p.His146Asp | |
| NM_002617.4:c.868C>G MANE Select | NP_002608.1:p.His290Asp | |
| NM_153818.2:c.928C>G | NP_722540.1:p.His310Asp | |
| NR_164636.1:n.983C>G |