COSMIC:
COSM4998799 (not active)
COSM4998800 (not active)
Revel Score:
ENST00000399220 (MANE Select)
0.046
ENST00000538756
0.046
ENST00000358309
0.046
ENST00000541347
0.046
ENST00000542107
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28062443 (NFE)
Genomes Max Group AF
0.27733013 (NFE)
Exomes Max Group AF
0.28064655 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265765C>T , CM000665.2:g.39265765C>T | GRCh38 |
| NC_000003.11:g.39307256C>T , CM000665.1:g.39307256C>T | GRCh37 |
| NC_000003.10:g.39282260C>T | NCBI36 |
| NG_016362.1:g.20971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.745G>A MANE Select | ENSP00000382166.3:p.Val249Ile | |
| ENST00000358309.3:c.841G>A | ENSP00000351059.3:p.Val281Ile | |
| ENST00000399220.2:c.745G>A | ENSP00000382166.2:p.Val249Ile | |
| ENST00000541347.5:c.745G>A | ENSP00000439140.1:p.Val249Ile | |
| ENST00000542107.5:c.745G>A | ENSP00000444928.1:p.Val249Ile | |
| NM_001171171.1:c.745G>A | NP_001164642.1:p.Val249Ile | |
| NM_001171172.1:c.745G>A | NP_001164643.1:p.Val249Ile | |
| NM_001171174.1:c.841G>A | NP_001164645.1:p.Val281Ile | |
| NM_001337.3:c.745G>A | NP_001328.1:p.Val249Ile | |
| NM_001337.4:c.745G>A MANE Select | NP_001328.1:p.Val249Ile | |
| NM_001171171.2:c.745G>A | NP_001164642.1:p.Val249Ile | |
| NM_001171172.2:c.745G>A | NP_001164643.1:p.Val249Ile |