ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000749 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00007452 (NFE)
Revel Score:
ENST00000324868 (MANE Select)
0.335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755124T>C , CM000674.2:g.32755124T>C | GRCh38 |
| NC_000012.11:g.32908058T>C , CM000674.1:g.32908058T>C | GRCh37 |
| NC_000012.10:g.32799325T>C | NCBI36 |
| NG_028122.1:g.5830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.751A>G MANE Select | ENSP00000320658.8:p.Ile251Val | |
| ENST00000324868.12:c.751A>G | ENSP00000320658.8:p.Ile251Val | |
| ENST00000548490.1:c.673A>G | ENSP00000447710.1:p.Ile225Val | |
| NM_001040436.2:c.751A>G | NP_001035526.1:p.Ile251Val | |
| XR_242891.3:n.838A>G | ||
| XR_242892.3:n.838A>G | ||
| XR_429036.1:n.838A>G | ||
| XR_931296.1:n.838A>G | ||
| XR_931297.1:n.838A>G | ||
| XR_931298.1:n.838A>G | ||
| XR_931299.1:n.838A>G | ||
| XR_001748730.2:n.1335A>G | ||
| XR_002957331.1:n.1335A>G | ||
| XR_242892.5:n.1335A>G | ||
| XR_931296.3:n.1335A>G | ||
| NM_001040436.3:c.751A>G MANE Select | NP_001035526.1:p.Ile251Val |