ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013583 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00014236 (NFE)
Revel Score:
ENST00000502658
0.233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60945369C>G , CM000667.2:g.60945369C>G | GRCh38 |
| NC_000005.9:g.60241196C>G , CM000667.1:g.60241196C>G | GRCh37 |
| NC_000005.8:g.60276953C>G | NCBI36 |
| NG_008978.1:g.5241C>G | |
| NG_009289.1:g.4710G>C , LRG_466:g.4710G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.114C>G MANE Select | ENSP00000296597.5:p.Tyr38Ter | |
| ENST00000677756.1:c.114C>G | ENSP00000503642.1:p.Tyr38Ter | |
| ENST00000677932.1:c.114C>G | ENSP00000504750.1:p.Tyr38Ter | |
| ENST00000678452.1:c.114C>G | ENSP00000504248.1:p.Tyr38Ter | |
| ENST00000296597.9:c.114C>G | ENSP00000296597.5:p.Tyr38Ter | |
| ENST00000502658.1:c.35C>G | ||
| ENST00000511107.1:c.114C>G | ENSP00000423377.1:p.Tyr38Ter | |
| NM_174889.4:c.114C>G | NP_777549.1:p.Tyr38Ter | |
| NM_174889.5:c.114C>G MANE Select | NP_777549.1:p.Tyr38Ter |