COSMIC:
COSM4987127 (not active)
Revel Score:
ENST00000216733 (MANE Select)
0.094
ENST00000351354
0.094
ENST00000429593
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01923457 (NFE)
Genomes Max Group AF
0.01849969 (NFE)
Exomes Max Group AF
0.01923328 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23360281C>T , CM000676.2:g.23360281C>T | GRCh38 |
| NC_000014.8:g.23829490C>T , CM000676.1:g.23829490C>T | GRCh37 |
| NC_000014.7:g.22899330C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216733.8:c.298G>A MANE Select | ENSP00000216733.3:p.Val100Met | |
| ENST00000216733.7:c.298G>A | ENSP00000216733.3:p.Val100Met | |
| ENST00000351354.3:c.19G>A | ENSP00000340607.3:p.Val7Met | |
| ENST00000429593.6:c.19G>A | ENSP00000416684.2:p.Val7Met | |
| NM_001277174.1:c.19G>A | NP_001264103.1:p.Val7Met | |
| NM_005864.3:c.298G>A | NP_005855.1:p.Val100Met | |
| NM_032459.2:c.19G>A | NP_115835.1:p.Val7Met | |
| XM_005267256.1:c.298G>A | XP_005267313.1:p.Val100Met | |
| XM_005267256.2:c.298G>A | XP_005267313.1:p.Val100Met | |
| XM_024449457.1:c.19G>A | XP_024305225.1:p.Val7Met | |
| NM_005864.4:c.298G>A MANE Select | NP_005855.1:p.Val100Met | |
| NM_032459.3:c.19G>A | NP_115835.1:p.Val7Met | |
| NM_001277174.2:c.19G>A | NP_001264103.1:p.Val7Met | |
| NM_001385607.1:c.19G>A | NP_001372536.1:p.Val7Met |