COSMIC:
COSM4419130 (not active)
Revel Score:
ENST00000332271
0.039
ENST00000533313
0.039
ENST00000527701
0.039
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38937652 (AMR)
Genomes Max Group AF
0.31035313 (AMR)
Exomes Max Group AF
0.4146331 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24748945C>T , CM000684.2:g.24748945C>T | GRCh38 |
| NC_000022.10:g.25144912C>T , CM000684.1:g.25144912C>T | GRCh37 |
| NC_000022.9:g.23474912C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527701.6:c.*1383G>A | ENSP00000435718.2:n.*1383G>A | |
| ENST00000533313.6:c.*1337G>A | ENSP00000431843.2:n.*1337G>A | |
| ENST00000616349.5:c.1411G>A MANE Select | ENSP00000479524.2:p.Val471Ile | |
| ENST00000332271.9:c.1411G>A | ENSP00000330031.5:p.Val471Ile | |
| ENST00000527701.5:c.1084G>A | ENSP00000435718.1:p.Val362Ile | |
| ENST00000532537.2:n.1832G>A | ||
| ENST00000533313.5:c.1084G>A | ENSP00000431843.1:p.Val362Ile | |
| ENST00000616349.4:c.1411G>A | ENSP00000479524.1:p.Val471Ile | |
| NM_001008496.3:c.1411G>A | NP_001008496.2:p.Val471Ile | |
| NM_001255975.1:c.1411G>A MANE Select | NP_001242904.1:p.Val471Ile | |
| NR_045648.1:n.2042G>A | ||
| NR_045649.2:n.1915G>A |