COSMIC:
COSM1179584 (not active)
Revel Score:
ENST00000370449
0.234
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27366321 (SAS)
Genomes Max Group AF
0.25642358 (SAS)
Exomes Max Group AF
0.27402501 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99804058G>A , CM000672.2:g.99804058G>A | GRCh38 |
| NC_000010.10:g.101563815G>A , CM000672.1:g.101563815G>A | GRCh37 |
| NC_000010.9:g.101553805G>A | NCBI36 |
| NG_011798.1:g.26353G>A | |
| NG_011798.2:g.26461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.1249G>A MANE Select | ENSP00000497274.1:p.Val417Ile | |
| ENST00000370449.8:c.1249G>A | ENSP00000359478.4:p.Val417Ile | |
| NM_000392.4:c.1249G>A | NP_000383.1:p.Val417Ile | |
| XM_006717630.2:c.553G>A | XP_006717693.1:p.Val185Ile | |
| XM_006717631.2:c.1249G>A | XP_006717694.1:p.Val417Ile | |
| XM_011539291.1:c.1249G>A | XP_011537593.1:p.Val417Ile | |
| XR_945604.1:n.1438G>A | ||
| XR_945605.1:n.1440G>A | ||
| NM_000392.5:c.1249G>A MANE Select | NP_000383.2:p.Val417Ile | |
| XM_006717630.3:c.553G>A | XP_006717693.1:p.Val185Ile | |
| XM_006717631.4:c.1249G>A | XP_006717694.1:p.Val417Ile | |
| XM_011539291.3:c.1249G>A | XP_011537593.1:p.Val417Ile | |
| XM_017015675.2:c.1249G>A | XP_016871164.1:p.Val417Ile | |
| XR_945604.3:n.1492G>A | ||
| XR_945605.3:n.1492G>A |