COSMIC:
COSM5442867 (not active)
Revel Score:
ENST00000541315
0.024
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00072932 (NFE)
Genomes Max Group AF
0.00070785 (AMR)
Exomes Max Group AF
0.00073709 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410816C>T , CM000681.2:g.41410816C>T | GRCh38 |
| NC_000019.9:g.41916721C>T , CM000681.1:g.41916721C>T | GRCh37 |
| NC_000019.8:g.46608561C>T | NCBI36 |
| NG_013004.1:g.18028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.288C>T MANE Select | ENSP00000269980.2:p.His96= | |
| ENST00000269980.6:c.288C>T | ENSP00000269980.2:p.His96= | |
| ENST00000457836.6:c.222C>T | ENSP00000416000.2:p.His74= | |
| ENST00000538423.5:n.308C>T | ||
| ENST00000540732.3:c.390C>T | ENSP00000443246.1:p.His130= | |
| ENST00000541315.1:c.95C>T | ||
| ENST00000542943.5:c.288C>T | ENSP00000440345.1:p.His96= | |
| ENST00000595085.5:c.288C>T | ENSP00000471150.2:p.His96= | |
| ENST00000604424.1:n.530C>T | ||
| NM_000709.3:c.288C>T | NP_000700.1:p.His96= | |
| NM_001164783.1:c.288C>T | NP_001158255.1:p.His96= | |
| NM_000709.4:c.288C>T MANE Select | NP_000700.1:p.His96= | |
| NM_001164783.2:c.288C>T | NP_001158255.1:p.His96= |