ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859797G>C , CM000668.2:g.31859797G>C | GRCh38 |
| NC_000006.11:g.31827574G>C , CM000668.1:g.31827574G>C | GRCh37 |
| NC_000006.10:g.31935553G>C | NCBI36 |
| NG_008201.1:g.8136C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1170C>G MANE Select | ENSP00000364782.4:p.Tyr390Ter | |
| ENST00000677054.1:n.2509C>G | ||
| ENST00000677512.1:n.1447C>G | ||
| ENST00000678869.1:n.1758C>G | ||
| ENST00000375631.4:c.1170C>G | ENSP00000364782.4:p.Tyr390Ter | |
| ENST00000480384.1:n.1469C>G | ||
| ENST00000491768.5:c.*280C>G | ENSP00000433127.1:n.*280C>G | |
| ENST00000495807.1:n.2478C>G | ||
| NM_000434.3:c.1170C>G | NP_000425.1:p.Tyr390Ter | |
| NM_000434.4:c.1170C>G MANE Select | NP_000425.1:p.Tyr390Ter |