Revel Score:
ENST00000288774
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00283771 (AFR)
Genomes Max Group AF
0.00266703 (AFR)
Exomes Max Group AF
0.00275325 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406922T>C , CM000663.2:g.2406922T>C | GRCh38 |
| NC_000001.10:g.2338361T>C , CM000663.1:g.2338361T>C | GRCh37 |
| NC_000001.9:g.2328221T>C | NCBI36 |
| NG_008342.1:g.10650A>G | |
| NG_016128.1:g.20148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.634A>G | ENSP00000288774.3:p.Met212Val | |
| ENST00000447513.7:c.601-27A>G MANE Select | ENSP00000407922.2:n.601-27A>G | |
| ENST00000650293.1:c.555-27A>G | ||
| ENST00000288774.7:c.634A>G | ENSP00000288774.3:p.Met212Val | |
| ENST00000447513.6:c.601-27A>G | ENSP00000407922.2:n.601-27A>G | |
| ENST00000507596.5:c.601-27A>G | ENSP00000424291.1:n.601-27A>G | |
| ENST00000510434.1:c.597-27A>G | ENSP00000423051.1:n.597-27A>G | |
| NM_002617.3:c.601-27A>G | NP_002608.1:n.601-27A>G | |
| NM_153818.1:c.634A>G | NP_722540.1:p.Met212Val | |
| XM_011541573.1:c.631A>G | XP_011539875.1:p.Met211Val | |
| XM_011541574.1:c.199A>G | XP_011539876.1:p.Met67Val | |
| XM_011541575.1:c.199A>G | XP_011539877.1:p.Met67Val | |
| XR_946666.1:n.717-27A>G | ||
| XR_946666.2:n.666-27A>G | ||
| NM_001374425.1:c.631A>G | NP_001361354.1:p.Met211Val | |
| NM_001374426.1:c.199A>G | NP_001361355.1:p.Met67Val | |
| NM_001374427.1:c.169-27A>G | NP_001361356.1:n.169-27A>G | |
| NM_002617.4:c.601-27A>G MANE Select | NP_002608.1:n.601-27A>G | |
| NM_153818.2:c.634A>G | NP_722540.1:p.Met212Val | |
| NR_164636.1:n.716-27A>G |