COSMIC:
COSM4987268 (not active)
Revel Score:
ENST00000276431 (MANE Select)
0.274
ENST00000347739
0.274
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26880543 (EAS)
Genomes Max Group AF
0.2779406 (EAS)
Exomes Max Group AF
0.26632625 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23043188G>A , CM000670.2:g.23043188G>A | GRCh38 |
| NC_000008.10:g.22900701G>A , CM000670.1:g.22900701G>A | GRCh37 |
| NC_000008.9:g.22956646G>A | NCBI36 |
| NG_012145.1:g.31000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276431.9:c.200C>T MANE Select | ENSP00000276431.4:p.Ala67Val | |
| ENST00000276431.8:c.200C>T | ENSP00000276431.4:p.Ala67Val | |
| ENST00000347739.3:c.200C>T | ENSP00000317859.3:p.Ala67Val | |
| ENST00000519028.1:n.328C>T | ||
| ENST00000519910.1:n.207C>T | ||
| ENST00000523504.5:c.145-12316C>T | ENSP00000427999.1:n.145-12316C>T | |
| NM_003842.4:c.200C>T | NP_003833.4:p.Ala67Val | |
| NM_147187.2:c.200C>T | NP_671716.2:p.Ala67Val | |
| NR_027140.1:n.438-12316C>T | ||
| XR_949500.1:n.493C>T | ||
| NM_003842.5:c.200C>T MANE Select | NP_003833.4:p.Ala67Val | |
| NM_147187.3:c.200C>T | NP_671716.2:p.Ala67Val | |
| NR_027140.2:n.282-12316C>T |