Revel Score:
ENST00000248272
0.169
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00527027 (MID)
Genomes Max Group AF
0.00252712 (NFE)
Exomes Max Group AF
0.00493314 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365421C>T , CM000678.2:g.81365421C>T | GRCh38 |
| NC_000016.9:g.81399026C>T , CM000678.1:g.81399026C>T | GRCh37 |
| NC_000016.8:g.79956527C>T | NCBI36 |
| NG_009007.1:g.55456C>T , LRG_242:g.55456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1153C>T | ENSP00000498114.1:n.*1153C>T | |
| ENST00000648994.2:c.1445C>T MANE Select | ENSP00000497351.1:p.Ala482Val | |
| ENST00000650388.1:c.979C>T | ENSP00000498081.1:n.979C>T | |
| ENST00000567335.1:n.3C>T | ||
| ENST00000568107.2:c.1445C>T | ENSP00000476795.1:p.Ala482Val | |
| NM_022041.3:c.1445C>T , LRG_242t1:c.1445C>T | NP_071324.1:p.Ala482Val | |
| XM_017023734.1:c.806C>T | XP_016879223.1:p.Ala269Val | |
| NM_001377486.1:c.806C>T | NP_001364415.1:p.Ala269Val | |
| NM_022041.4:c.1445C>T MANE Select | NP_071324.1:p.Ala482Val |